Article
Separation in genetic pathogenesis of mutations in FBN1-TB5 region between autosomal dominant acromelic dysplasia and Marfan syndrome.
Birth defects research - 1 Dec 2020
Sun Chengjun, Xu Dandan, Pei Zhou, Yang Lin, Qiao Zhongwei, Lu Wei, Luo Feihong, Qiu Zhengqing
Abstract excerpt
Mutations in the transforming growth factor β-binding protein-like domain 5 (TB5) region of FBN1 can lead to autosomal acromelic dysplasia and Marfan syndrome, which are two diseases with apparently opposite phenotypes. We identified six patients with acromelic dysplasia carrying either the previously reported mutations c.5284G > A (p.Gly1762Ser) and c.5096A > G (p.Tyr1699Cys) or the novel mutation c.5260G > A...
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