Medicine
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21 march 2019 00:00:37 |
| A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract (BMC Medical Genetics) |
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Tweet Congenital cataract is the most common cause of blindness among children worldwide. The aim of this study was to identify causative mutations in a Chinese family with isolated autosomal dominant posterior subc... |
| 57 viewsCategory: Genetics, Medicine |
 A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family (BMC Medical Genetics)An immunocompetent patient with a nonsense mutation in NHEJ1 gene (BMC Medical Genetics) 
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