Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome
Author:
Publisher
Medical Journals Sweden AB
Subject
Dermatology,General Medicine
Cited by 6 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. Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review;Molecular Genetics & Genomic Medicine;2022-12-11
2. Novel NSDHL gene variant for congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome;BMJ Case Reports;2020-11
3. Mosaicism in genodermatoses;Clinics in Dermatology;2020-07
4. An excellent response to topical therapy of four congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome patients with an increased concentration of simvastatin ointment;Journal of the European Academy of Dermatology and Venereology;2019-10-14
5. CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol;Journal of the European Academy of Dermatology and Venereology;2018-02-01
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