Novel variant in NSDHL gene associated with CHILD syndrome and syndactyly- a case report

BACKGROUND: Congenital hemidysplasia with ichthyosiform erythroderma and limb defects also known as CHILD syndrome is an X-linked dominant, male lethal genodermatosis with a prevalence of 1 in 100,000 live births. Mutations in NSDHL gene located at Xq28 potentially impair the function of NAD(P) H st...

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Detalles Bibliográficos
Autores principales: Hettiarachchi, D., Panchal, Hetalkumar, Lai, P. S., Dissanayake, V. H. W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439548/
https://www.ncbi.nlm.nih.gov/pubmed/32819291
http://dx.doi.org/10.1186/s12881-020-01094-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7439548/
https://www.ncbi.nlm.nih.gov/pubmed/32819291
http://dx.doi.org/10.1186/s12881-020-01094-y

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