Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient-Reference-Cited by-同舟云学术

Congenital ichthyosiform erythroderma with a novel variant in ABCA12 in a Chinese patient

Published:2020-03 Issue:1 Volume:4 Page:51-54
ISSN:2574-2272
Container-title:Pediatric Investigation
language:en
Short-container-title:Pediatric Investigation

Author:

Yang Zhou¹,Qi Zhan²,Xu Zhe¹,Li Wei²,Ma Lin¹

Affiliation:

1. Department of Dermatology Beijing Children’s Hospital Capital Medical University National Center for Children’s Health Beijing China

2. Beijing Key Laboratory for Genetics of Birth Defects MOE Key Laboratory of Major Diseases in Children Center for Medical Genetics Beijing Pediatric Research Institute Beijing Children’s Hospital Capital Medical University National Center for Children’s Health China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ped4.12182

Reference13 articles.

1. Autosomal Recessive Congenital Ichthyosis

2. NovelABCA12missense mutation p.Phe2144Ser underlies congenital ichthyosiform erythroderma

3. Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients

4. Novel ABCA12 compound heterozygous mutations identified in a patient with congenital ichthyosiform erythroderma and aortopulmonary window;Yang Z;Eur J Dermatol,2019

5. Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer

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