"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. (Q55442546)

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

Language	Label	Description	Also known as
English	"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype.	scientific article	"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype

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scholarly article

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

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

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

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1 reference

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5

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

Deborah A Nickerson

4

object named as

Deborah A Nickerson

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

3

object named as

Mark J Rieder

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

author name string

Daniela V Luquetti

1

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

Anne V Hing

2

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

Joshua Smith

6

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

Sarah Park

7

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

Michael L Cunningham

8

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Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

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publication date

14 December 2012

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Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

American Journal of Medical Genetics

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10 July 2018

http://europepmc.org/abstract/PMC/3535578

161A

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Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

1

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Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

108-113

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Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

Clinical application of exome sequencing in undiagnosed genetic conditions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

CHD7 functions in the nucleolus as a positive regulator of ribosomal RNA biogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

Exome sequencing identifies the cause of a mendelian disorder

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

Assembly of ribosomes and spliceosomes: complex ribonucleoprotein machines

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3535578

15 July 2018

Identifiers

10.1002/AJMG.A.35696

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

1 reference

Europe PubMed Central

10 July 2018

http://europepmc.org/abstract/PMC/3535578

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