Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in <i>CHKB</i>-Reference-Cited by-同舟云学术

Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB

Published:2023-11-10 Issue: Volume: Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Gong Zhuoqing¹²,Chen Kai³,Xu Zhe⁴⁵,Yang Zhou⁴,Wang Huijun¹,Lin Zhimiao¹²^ORCID

Affiliation:

1. Dermatology Hospital Southern Medical University Guangzhou China

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

3. Department of Dermatology The Fifth People's Hospital of Hainan Province Haikou China

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

5. Department of Dermatology Shunyi Maternal and Children's Hospital of Beijing Children's Hospital Beijing China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.19598

Reference8 articles.

1. A Congenital Muscular Dystrophy with Mitochondrial Structural Abnormalities Caused by Defective De Novo Phosphatidylcholine Biosynthesis

2. Megaconial congenital muscular dystrophy due to loss-of-function mutations in choline kinase β

3. Megaconial congenital muscular dystrophy: Same novel homozygous mutation in CHKB gene in two unrelated Chinese patients

4. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients

5. Importance of skin changes in the differential diagnosis of congenital muscular dystrophies;Yis U;Biomed Res Int,2016

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