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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...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2020
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| 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 |