Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis-Reference-Cited by-同舟云学术

Narrowing the Genomic Region of Autosomal-Dominant Congenital Generalized Hypertrichosis Terminalis

Published:2021-06-01 Issue:6 Volume:157 Page:733
ISSN:2168-6068
Container-title:JAMA Dermatology
language:en
Short-container-title:JAMA Dermatol

Author:

Mo Ran¹,Xu Zhe²³,Wang Huijun¹,Yan Wei¹,Jiang Xingyuan¹,Lin Zhimiao¹

Affiliation:

1. Department of Dermatology, Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses and National Clinical Research Center for Skin and Immune Diseases, Beijing 100034, China

2. Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China

3. Department of Dermatology, Shunyi Maternal and Children’s Hospital of Beijing Children’s Hospital, Beijing 101300, China

Publisher

American Medical Association (AMA)

Subject

Dermatology

Link

https://jamanetwork.com/journals/jamadermatology/articlepdf/2778633/jamadermatology_mo_2021_lo_210005_1623774368.06814.pdf

Reference6 articles.

1. Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia.;Sun;Am J Hum Genet,2009

2. First Japanese case of congenital generalized hypertrichosis with a copy number variation on chromosome 17q24.;Hayashi;J Dermatol Sci,2017

3. De Novo 17q24.2-q24.3 microdeletion presenting with generalized hypertrichosis terminalis, gingival fibromatous hyperplasia, and distinctive facial features.;Afifi;Am J Med Genet A,2015

4. Mutations in the cholesterol transporter gene ABCA5 are associated with excessive hair overgrowth.;DeStefano;PLoS Genet,2014

5. Macrophage ABCA5 deficiency influences cellular cholesterol efflux and increases susceptibility to atherosclerosis in female LDLr knockout mice.;Ye;Biochem Biophys Res Commun,2010

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2. Exome sequencing reveals the first intragenic deletion in ABCA5 underlying autosomal recessive hypertrichosis;Clinical and Experimental Dermatology;2022-06-01