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

Author:

Eyaid Wafaa,Al-Qattan Mohammad M.,Al Abdulkareem Ibrahim,Fetaini Nouf,Al Balwi Mohammed

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference24 articles.

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2. Novel human pathological mutations. Gene symbol: WNT7A. Disease: Ulnar and fibula absence, with severe limb deficiency;Al Balwi;Hum Genet,2009

3. Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: A new syndrome;Al-Awadi;J Med Genet,1985

4. Congenital duplication of the palm in a patient with multiple anomalies;Al-Qattan;J Hand Surg Br,2003

5. Congenital duplication of the palm syndrome;Al-Qattan;Ann Plast Surg,2007

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