Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene-Reference-Cited by-同舟云学术

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Novel mutations in Chinese hypotrichosis simplex patients associated with LSS gene

Published:2020-11-22 Issue:3 Volume:48 Page:408-412
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J. Dermatol.

Author:

Hua Shengyuan¹^ORCID,Ding Yu²,Zhang Jia³,Qian Qiufang¹,Li Ming³^ORCID

Affiliation:

1. Department of Dermatology Shanghai Children’s Hospital Shanghai JiaoTong University ShanghaiChina

2. Dermatology Department of Mianyang Central Hospital MianyangChina

3. Department of Dermatology Xinhua Hospital Affiliated to Shanghai Jiaotong University School of Medicine Shanghai China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15697

Reference10 articles.

1. Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

2. Congenital cataract with LSS gene mutations: a new case report;Chen X;J Pedeatr Endocr Met,2017

3. Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome

4. A novel and a known mutation in LSS gene associated with hypotrichosis 14 in a Chinese family

5. Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

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. Clinical and genetic analyses of APMR4 syndrome caused by novel biallelic LSS variants;Frontiers in Neuroscience;2024-05-10

2. A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene;Molecular Genetics & Genomic Medicine;2023-11-10

3. <i>DSG4</i> Gene Variants as a Cause of Hypotrichosis in the Child with Severe Atopic Dermatitis: Clinical Case;Current Pediatrics;2023-11-05

4. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS‐related rare disease traits;Clinical Genetics;2023-05-09

5. Non‐syndromic hypotrichosis: A report of two novel variants in the LSS gene;Pediatric Dermatology;2023-04-07

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