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Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta

✍ Scribed by Pablo Lapunzina; Mona Aglan; Samia Temtamy; José A. Caparrós-Martín; Maria Valencia; Rocío Letón; Victor Martínez-Glez; Rasha Elhossini; Khalda Amr; Nuria Vilaboa; Victor L. Ruiz-Perez

Book ID
113422866
Publisher
American Society of Human Genetics
Year
2010
Tongue
English
Weight
370 KB
Volume
87
Category
Article
ISSN
0002-9297

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✍ Víctor Martínez-Glez; Maria Valencia; José A. Caparrós-Martín; Mona Aglan; Samia 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 383 KB

Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR-OI) and a large umbilical hernia. Homozygosity mapping in this family showed lack of linkage to any of the previously known AR-OI genes, but revealed a 10.