First case report of complete paternal isodisomy of chromosome 10 harbouring a novel variant in COL17A1 that causes junctional epidermolysis bullosa intermediate

BACKGROUND: Uniparental disomy (UPD) is a condition in which both chromosomes are inherited from the same parent, except for imprinting disorders. Uniparental isodisomy (UPiD) may result in a homozygous variant contributing to an autosomal recessive disorder in the offspring of a heterozygous carrie...

Descripción completa

Detalles Bibliográficos
Autores principales: Wang, Yao, Yu, Dong, Wei, Wei, Zheng, Hao, Liu, Ming-Hua, Ma, Long, Qin, Li-Na, Wang, Neng-Zhuang, Li, Jia-Xi, Wang, Jin-Jiang, Bi, Xin-Ling, Yan, Hong-Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9206295/
https://www.ncbi.nlm.nih.gov/pubmed/35717189
http://dx.doi.org/10.1186/s12920-022-01285-x

Ejemplares similares

Ejemplares similares