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

BACKGROUND: CHILD syndrome is an X‐linked dominant disorder associated with pathogenic mutations in the NSDHL gene. The condition is predominantly found in females as it is lethal in males. Most cases present at birth with extensive unilateral ichthyosiform erythroderma involving the trunk and limbs...

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Detalles Bibliográficos
Autores principales: Tan, Ene‐Choo, Chia, Shi Yun, Rafi’ee, Khadijah, Lee, Shan Xian, Kwek, Andrew Boon Eu, Tan, Sze Hwa, Ng, Victor Weng Leong, Wei, Heming, Koo, Stephanie, Koh, Ai Ling, Koh, Mark Jean‐Aan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801147/
https://www.ncbi.nlm.nih.gov/pubmed/34957706
http://dx.doi.org/10.1002/mgg3.1848

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