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A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome

✍ Scribed by Chou, Janet; Hanna-Wakim, Rima; Tirosh, Irit; Kane, Jennifer; Fraulino, David; Lee, Yu Nee; Ghanem, Soha; Mahfouz, Iman; Mégarbané, André; Lefranc, Gérard; Inati, Adlette; Dbaibo, Ghassan; Giliani, Silvia; Notarangelo, Luigi D.; Geha, Raif S.; Massaad, Michel J.


Book ID
119286854
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
132 KB
Volume
130
Category
Article
ISSN
1097-6825

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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