Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies
نویسندگان
چکیده
منابع مشابه
Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies.
Ocular mal-development results in heterogeneous and frequently visually disabling phenotypes that include coloboma and microphthalmia. Due to the contribution of bone morphogenetic proteins to such processes, the function of the paralogue Growth Differentiation Factor 3 was investigated. Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2009
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddp496