Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis-Reference-Cited by-同舟云学术

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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis

Published:2020-07 Issue:7 Volume:22 Page:1227-1234
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Malki Liron,Sarig Ofer,Cesarato Nicole,Mohamad Janan,Canter Talia,Assaf Sari,Pavlovsky Mor,Vodo Dan,Anis Yossi,Bihari Ofer,Malovitski Kiril,Gat Andrea,Thiele Holger,White Bethany E. Perez,Samuelov Liat,Nanda Arti,Paller Amy S.,Betz Regina C.,Sprecher Eli^ORCID

Funder

Ram family foundation

German-Israeli Foundation for Scientific Research and Development

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-020-0794-5.pdf

Reference41 articles.

1. Genetic hair disorders: a review;Ahmed;Dermatol Ther (Heidelb),2019

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. Inherited Hair Disorders;Rook's Textbook of Dermatology;2024-02-20

2. A review of genotrichoses and hair pathology associated with inherited skin diseases;British Journal of Dermatology;2023-03-29

3. Molecular Basis of Hereditary Hair Diseases;The Keio Journal of Medicine;2023

4. Autosomal recessive congenital ichthyosis caused by a pathogenic missense variant in CLDN1;American Journal of Medical Genetics Part A;2022-08-03

5. Up-regulation of ST18 in pemphigus vulgaris drives a self-amplifying p53-dependent pathomechanism resulting in decreased desmoglein 3 expression;Scientific Reports;2022-04-08

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