Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum
نویسندگان
چکیده
منابع مشابه
Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia.
Spondyloepiphyseal dysplasia (SED) is an autosomal dominant skeletal dysplasia characterized by short stature, abnormal epiphyses and flattened vertebral bodies. SED is mainly caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We looked for mutations in COL2A1 in three unrelated Chinese families with SED. Putative mutations were confirmed by RFLP analysis. We i...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2017
ISSN: 2054-345X
DOI: 10.1038/hgv.2017.40