Etiological identification of recurrent male fatality due to a novel NSDHL gene mutation using trio whole‐exome sequencing: A rare case report and literature review

BACKGROUND: Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X‐linked dominant, lethal male disorder caused by mutations to the NSDHL (NAD(P)H steroid dehydrogenase‐like protein) gene. It primarily exhibits strictly unilateral congenital hemidysplasia wit...

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Detalles Bibliográficos
Autores principales: Zhuang, Jianlong, Luo, Qi, Xie, Meihua, Chen, Yu’e, Jiang, Yuying, Zeng, Shuhong, Wang, Yuanbai, Xie, Yingjun, Chen, Chunnuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009909/
https://www.ncbi.nlm.nih.gov/pubmed/36504312
http://dx.doi.org/10.1002/mgg3.2121

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10009909/
https://www.ncbi.nlm.nih.gov/pubmed/36504312
http://dx.doi.org/10.1002/mgg3.2121

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