A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families

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Bibliographic Details
Published inAmerican Journal of Medical Genetics Part A Vol. 155A; no. 3; pp. 599 - 604
Main Authors Eyaid, Wafaa, Al-Qattan, Mohammad M., Al Abdulkareem, Ibrahim, Fetaini, Nouf, Al Balwi, Mohammed
Format Report
LanguageEnglish
Published Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.03.2011
Subjects
Al-Awadi syndrome
Fuhrmann syndrome
limb/pelvis hypoplasia/aplasia syndrome
palmer duplication syndrome
Raas-Rothschild syndrome
rudimentary uterus
Schinzel phocomelia syndrome
tetra-amelia
WNT7A
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Bibliography:Wafaa Eyaid and Mohammad M. Al-Qattan contributed equally to this work.
ArticleID:AJMG33717
King Abdullah International Medical Research Center - No. RC #08/032
How to Cite this Article: Eyaid W, Al-Qattan MM, Al Abdulkareem I, Fetaini N, Al Balwi M. 2011. A novel homozygous missense mutation (c.610G>A, p.Gly204Ser) in the WNT7A gene causes tetra-amelia in two Saudi families. Am J Med Genet Part A 155: 599-604.
ark:/67375/WNG-H6W27WKL-G
istex:8323990B0F206636DA5BC41115978653D45BB499
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.33717