Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene-Reference-Cited by-同舟云学术

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Two cases of severe congenital hypotrichosis caused by compound heterozygous mutations in the LSS gene

Published:2020-11-06 Issue:3 Volume:48 Page:392-396
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J. Dermatol.

Author:

Murata Mami¹^ORCID,Hayashi Ryota²^ORCID,Kawakami Yoshio³^ORCID,Morizane Shin³^ORCID,Shimomura Yutaka¹^ORCID

Affiliation:

1. Department of Dermatology Yamaguchi University Graduate School of Medicine UbeJapan

2. Division of Dermatology Niigata University Graduate School of Medical and Dental Sciences NiigataJapan

3. Department of Dermatology Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences Okayama Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15679

Reference15 articles.

1. Human Hair Growth Deficiency Is Linked to a Genetic Defect in the Phospholipase Gene LIPH

2. G protein–coupled receptor P2Y5 and its ligand LPA are involved in maintenance of human hair growth

3. Disruption of P2RY5, an orphan G protein–coupled receptor, underlies autosomal recessive woolly hair

4. Mutations in the Lipase H Gene Underlie Autosomal Recessive Woolly Hair/Hypotrichosis

5. PrevalentLIPHfounder mutations lead to loss of P2Y5 activation ability of PA-PLA1α in autosomal recessive hypotrichosis

Cited by 11 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. Two novel mutations in LSS gene associated with hypotrichosis simplex in a Chinese family;Journal of Cosmetic Dermatology;2024-08-16

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. 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

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

5. Biallelic mutations in LSS in autosomal‐recessive mutilating palmoplantar keratoderma;Experimental Dermatology;2023-03-06

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