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Absence of NOTCH2 and Hey2 mutations in a familial Alagille syndrome case with a novel frameshift mutation in JAG1

✍ Scribed by Inaam El-Rassy; Jad Bou-Abdallah; Sara Al-Ghadban; Fadi Bitar; Georges Nemer


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
131 KB
Volume
146A
Category
Article
ISSN
1552-4825

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## Abstract Axenfeld‐Rieger Syndrome (ARS) is a genetically heterogeneous birth defect characterized by malformation of the anterior segment of the eye associated with glaucoma. Mutation of the __PITX2__ homeobox gene has been identified as a cause of ARS. We report a novel Arg5Trp missense mutatio