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Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders

BACKGROUND: Genodermatoses are a broad group of disorders with specific or non-specific skin-based phenotypes, most of which are monogenic disorders. However, it’s a great challenge to make a precise molecular diagnosis because of the clinical heterogeneity. The genetic and clinical heterogeneity br...

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Detalles Bibliográficos
Autores principales:	Xintong, Zhu, Kexin, Zhang, Junwen, Wang, Ziyi, Wang, Na, Luo, Hong, Guo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10440863/ https://www.ncbi.nlm.nih.gov/pubmed/37605172 http://dx.doi.org/10.1186/s12920-023-01628-2

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