Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis-Reference-Cited by-同舟云学术

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Novel small‐insertion mutation in the LIPH gene in a patient with autosomal recessive woolly hair/hypotrichosis

Published:2020-09-09 Issue:12 Volume:47 Page:1445-1449
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:J Dermatol

Author:

Lv Hongli¹,Li Ming²³^ORCID,Cheng Ruhong²³^ORCID

Affiliation:

1. Department of Dermatology Jiading District Central Hospital Affiliated Shanghai University of Medicine and Health Sciences ShanghaiChina

2. Department of Dermatology Xinhua Hospital affiliated to Shanghai Jiao Tong University School of Medicine ShanghaiChina

3. Institute of Dermatology Shanghai Jiao Tong University School of Medicine Shanghai China

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.15581

Reference17 articles.

1. Identification of factors contributing to phenotypic divergence via quantitative image analyses of autosomal recessive woolly hair/hypotrichosis with homozygous c.736T>A LIPH mutation

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

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

4. Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT)

5. A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis

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