Historical note on restrictive dermopathy and report of two new cases
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference6 articles.
1. False-negative prenatal diagnosis of restrictive dermopathy
2. Autosomal-recessive aplasia cutis congenita—report of two affected sibs
3. Restrictive dermopathy and report of another case
4. Restrictive dermopathy, a lethal form of arthrogryposis multiplex with skin and bone dysplasias: Three new cases and review of the literature
Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Restrictive dermopathy: Three new patients with ZMPSTE24 mutations and a review of the literature;Pediatric Dermatology;2021-10-14
2. Novel frameshifting mutations of theZMPSTE24gene in two siblings affected with restrictive dermopathy and review of the mutations described in the literature;American Journal of Medical Genetics Part A;2010-02
3. A newly identified splice site mutation inZMPSTE24causes restrictive dermopathy in the Middle East;British Journal of Dermatology;2008-10
4. Restrictive dermopathy: a rare laminopathy;Archives of Gynecology and Obstetrics;2008-05-10
5. Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors;Human Molecular Genetics;2005-04-20
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