Acromicric dysplasia with stiff skin syndrome ‐like severe cutaneous presentation in an 8‐year‐old boy with a missense FBN1 mutation: Case report and literature review

ConclusionThis is a report about acromicric dysplasia with stiff skin syndrome ‐like severe cutaneous presentation caused by a single hotspot mutation, further revealing the gene pleiotropy ofFBN1.

Source: Molecular Genetics & Genomic Medicine - May 13, 2020 Category: Genetics & Stem Cells Authors: Tao Wang, Yuyan Yang, Qi Dong, Huijuan Zhu, Yuehua Liu Tags: ORIGINAL ARTICLE Source Type: research