A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement-Reference-Cited by-同舟云学术

A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement

Published:2021-12-26 Issue:1 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Tan Ene‐Choo¹²^ORCID,Chia Shi Yun²³,Rafi’ee Khadijah¹,Lee Shan Xian⁴,Kwek Andrew Boon Eu⁵,Tan Sze Hwa⁶,Ng Victor Weng Leong⁶,Wei Heming¹,Koo Stephanie¹,Koh Ai Ling²⁷,Koh Mark Jean‐Aan²³

Affiliation:

1. Research Laboratory KK Women's & Children's Hospital Singapore Singapore

2. Paediatrics Academic Clinical Programme SingHealth Duke‐NUS Graduate Medical School Singapore Singapore

3. Dermatology Service KK Women’s and Children’s Hospital Singapore Singapore

4. Department of Dermatology Changi General Hospital Singapore Singapore

5. Department of Gastroenterology and Hepatology Changi General Hospital Singapore Singapore

6. Department of Laboratory Medicine Changi General Hospital Singapore Singapore

7. Genetics Service KK Women’s and Children’s Hospital Singapore Singapore

Funder

National Medical Research Council

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1848

Reference28 articles.

1. Mutational spectrum of NSDHL in CHILD syndrome

2. Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy

3. A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

4. Developmental expression pattern of the cholesterogenic enzyme NSDHL and negative selection of NSDHL-deficient cells in the heterozygous Bpa1H/+ mouse

5. Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts