Boston type craniosynostosis: report of a second mutation in MSX2. (Q55057321)

16 June 2018

title

Boston type craniosynostosis: report of a second mutation in MSX2. (English)

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16 June 2018

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Joyce M G Florisson

1

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16 June 2018

Annemieke J M H Verkerk

2

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16 June 2018

Daphne Huigh

3

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16 June 2018

A Jeannette M Hoogeboom

4

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16 June 2018

Sigrid Swagemakers

5

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Andreas Kremer

6

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Daphne Heijsman

7

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Maarten H Lequin

8

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Irene M J Mathijssen

9

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Peter J van der Spek

10

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language of work or name

English

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publication date

15 August 2013

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16 June 2018

American Journal of Medical Genetics

published in

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volume

161A

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issue

10

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page(s)

2626-2633

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Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.

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Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2

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Buschke-Ollendorff syndrome: A manifestation of a heterozygous nonsense mutation in the LEMD3 gene

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A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis

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21 January 2018

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Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis.

21 January 2018

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The molecular basis of Boston-type craniosynostosis: the Pro148-->His mutation in the N-terminal arm of the MSX2 homeodomain stabilizes DNA binding without altering nucleotide sequence preferences

21 January 2018

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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype

21 January 2018

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Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies

21 January 2018

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Deactivating germline mutations in LEMD3 cause osteopoikilosis and Buschke-Ollendorff syndrome, but not sporadic melorheostosis

21 January 2018

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PedCheck: a program for identification of genotype incompatibilities in linkage analysis

21 January 2018

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Buschke-Ollendorff syndrome: a 32-month-old boy with elastomas and craniosynostosis

21 January 2018

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Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis

21 January 2018

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Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy

21 January 2018

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Huvariome: a web server resource of whole genome next-generation sequencing allelic frequencies to aid in pathological candidate gene selection

21 January 2018

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Craniosynostosis associated with distal 5q-trisomy: further evidence that extra copy of MSX2 gene leads to craniosynostosis

21 January 2018

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Newly recognized autosomal dominant disorder with craniosynostosis

21 January 2018

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Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification

21 January 2018

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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis.

21 January 2018

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Osteopoikilosis: what does the rheumatologist must know about it?

21 January 2018

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Identification of mutations in the MSX2 homeobox gene in families affected with foramina parietalia permagna

21 January 2018

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A novel mutation in theMSX2 gene in a family with foramina parietalia permagna (FPP)

21 January 2018

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https://api.crossref.org/works/10.1002%2FAJMG.A.36126

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.36126

1 reference

16 June 2018

PubMed ID

23949913

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16 June 2018