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

作者信息

Li Fucheng, Liao Can, Li Ru, Zhang Yongling, Jing Xiangyi, Li Yan, Deng Weiping

机构信息

Department of Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.

Department of Dermatology, Guangdong Academy of Medical Sciences, Guangdong Provincial People's Hospital, Guangzhou, China.

出版信息

J Dermatol. 2019 Nov;46(11):e393-e395. doi: 10.1111/1346-8138.15010. Epub 2019 Jul 19.

DOI:10.1111/1346-8138.15010
PMID:31322293
Abstract
摘要

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引用本文的文献

1
Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.毛发稀少症14：五个中国家系中LSS基因的新型变异及文献综述见解
Hum Genomics. 2025 Jul 22;19(1):84. doi: 10.1186/s40246-025-00798-7.
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Autosomal recessive hereditary hypotrichosis simplex: A case report.常染色体隐性单纯遗传性少毛症：一例报告。
JAAD Case Rep. 2024 Nov 29;56:8-10. doi: 10.1016/j.jdcr.2024.11.019. eCollection 2025 Feb.
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Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family.
一个中国家系中与单纯性少毛症相关的LSS基因的两个新突变。
J Cosmet Dermatol. 2024 Dec;23(12):4377-4379. doi: 10.1111/jocd.16530. Epub 2024 Aug 16.
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Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.新发脱发-智力障碍综合征相关 LSS 变异：新病例报告及 LSS 相关罕见病表型的临床谱。
Clin Genet. 2023 Sep;104(3):344-349. doi: 10.1111/cge.14348. Epub 2023 May 9.
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A novel homozygous mutation in gene possibly causes hypotrichosis simplex in two siblings of a Tibetan family from the western Sichuan province of China.在中国四川省西部一个藏族家庭的两名兄弟姐妹中，某基因的一种新型纯合突变可能导致单纯性毛发稀少。
Front Physiol. 2023 Jan 6;13:992190. doi: 10.3389/fphys.2022.992190. eCollection 2022.