CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G-Reference-Cited by-同舟云学术

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CHILD syndrome in a Malaysian adult with identification of a novel heterozygous missense mutation NSDHL c.602A>G

Published:2020-11-10 Issue:4 Volume:60 Page:
ISSN:0011-9059
Container-title:International Journal of Dermatology
language:en
Short-container-title:Int J Dermatol

Author:

Tang Min Moon¹^ORCID,Tan Wooi Chiang²^ORCID,Surana Uttam³⁴^ORCID,Leong Kin Fon⁵^ORCID,Pramano Zacharias Aloysius Dwi⁴^ORCID

Affiliation:

1. Department of Dermatology Hospital Kuala LumpurMinistry of Health Malaysia Kuala Lumpur Malaysia

2. Department of Dermatology, Hospital Pulau Pinang Ministry of Health Malaysia Kuala Lumpur Malaysia

3. Singapore Bioprocessing Technology Institute Singapore Singapore

4. National Skin Centre Singapore Singapore

5. Paediatric Dermatology Unit, Women and Children Hospital Ministry of Health Malaysia Kuala Lumpur Malaysia

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ijd.15296

Reference5 articles.

1. Ptychotropism as a cutaneous feature of the CHILD syndrome

2. The role of abnormalities in the distal pathway of cholesterol synthesis in the Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects (CHILD) syndrome

3. Pathogenesis-Based Therapy Reverses Cutaneous Abnormalities in an Inherited Disorder of Distal Cholesterol Metabolism

4. CHILD syndrome: A modified pathogenesis-targeted therapeutic approach

Cited by 1 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. A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement;Molecular Genetics & Genomic Medicine;2021-12-26

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