Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update (Q38617659)

4 September 2017

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update (English)

1 reference

Franceschetti–Klein syndrome

4 September 2017

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0 references

1 reference

10

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5 June 2020

Louise C. Pyle

35

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Bitten Schönewolf-Greulich

5 June 2020

39

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5 June 2020

Karen Temple

43

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5 June 2020

Susan White

48

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5 June 2020

53

Kym M Boycott

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5 June 2020

25

Usha Kini

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5 June 2020

6

Judith Allanson

1 reference

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5 June 2020

16

Karen W Gripp

1 reference

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5 June 2020

author name string

Lijia Huang

1

1 reference

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5 June 2020

Megan R Vanstone

2

1 reference

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5 June 2020

Taila Hartley

3

1 reference

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5 June 2020

Matthew Osmond

4

1 reference

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5 June 2020

Nick Barrowman

5

1 reference

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5 June 2020

Laura Baker

7

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5 June 2020

Tabib A Dabir

8

1 reference

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5 June 2020

Katrina M Dipple

9

1 reference

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5 June 2020

Jane Estrella

11

1 reference

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5 June 2020

Hanna Faghfoury

12

1 reference

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5 June 2020

Francine P Favaro

13

1 reference

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5 June 2020

Himanshu Goel

14

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5 June 2020

Pernille A Gregersen

15

1 reference

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5 June 2020

Art Grix

17

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5 June 2020

Maria-Leine Guion-Almeida

18

1 reference

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5 June 2020

Margaret H Harr

19

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5 June 2020

Cindy Hudson

20

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5 June 2020

Alasdair G W Hunter

21

1 reference

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5 June 2020

John Johnson

22

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5 June 2020

Shelagh K Joss

23

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5 June 2020

Amy Kimball

24

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5 June 2020

Antonie D Kline

26

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5 June 2020

Julie Lauzon

27

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5 June 2020

Dorte L Lildballe

28

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5 June 2020

Vanesa López-González

29

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5 June 2020

Johanna Martinezmoles

30

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5 June 2020

Cliff Meldrum

31

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5 June 2020

Ghayda M Mirzaa

32

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5 June 2020

Chantal F Morel

33

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5 June 2020

Jenny E V Morton

34

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5 June 2020

Fabiola Quintero-Rivera

36

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5 June 2020

Julie Richer

37

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5 June 2020

Angela E Scheuerle

38

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5 June 2020

Deborah J Shears

40

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5 June 2020

Josh Silver

41

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5 June 2020

Amanda C Smith

42

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26507355%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

UCLA Clinical Genomics Center

44

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5 June 2020

Jiddeke M van de Kamp

45

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5 June 2020

Fleur S van Dijk

46

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5 June 2020

Anthony M Vandersteen

47

1 reference

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5 June 2020

Elaine H Zackai

49

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5 June 2020

Ruobing Zou

50

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5 June 2020

Care4Rare Canada Consortium

51

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5 June 2020

Dennis E Bulman

52

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5 June 2020

Matthew A Lines

54

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5 June 2020

publication date

28 October 2015

1 reference

4 September 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26507355%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

volume

37

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26507355%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

page(s)

148-154

1 reference

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5 June 2020

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26507355%20AND%20SRC:MED&resulttype=core&format=json

Marrow failure: a window into ribosome biology

5 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genes TSR2 and RPS28

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

The cellular EJC interactome reveals higher-order mRNP structure and an EJC-SR protein nexus

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Clinical application of exome sequencing in undiagnosed genetic conditions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

LOVD v.2.0: the next generation in gene variant databases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Exome sequencing identifies the cause of a mendelian disorder

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Localization of Prp8, Brr2, Snu114 and U4/U6 proteins in the yeast tri-snRNP by electron microscopy

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Tcof1/Treacle is required for neural crest cell formation and proliferation deficiencies that cause craniofacial abnormalities

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother?

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Head circumference from birth to eighteen years. Practical composite international and interracial graphs

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5512564

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

31 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26507355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26507355

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22924

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26507355%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26507355%20AND%20SRC:MED&resulttype=core&format=json

5 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26507355%20AND%20SRC:MED&resulttype=core&format=json