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

Abstract Background Acromicric dysplasia is a rare heritable short‐stature syndrome with joint stiffness and varying degrees of cutaneous hardness. Stiff skin syndrome is a rare connective tissue disorder characterized by diffusely thick and hard skin from the time of birth. Heterozygous point mutat...

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Hlavní autoři:	Tao Wang, Yuyan Yang, Qi Dong, Huijuan Zhu, Yuehua Liu
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Wiley 2020-07-01
Edice:	Molecular Genetics & Genomic Medicine
Témata:	acromicric dysplasia FBN1 stiff skin syndrome
On-line přístup:	https://doi.org/10.1002/mgg3.1282
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