Ontology highlight
ABSTRACT:
SUBMITTER: Cui LM
PROVIDER: S-EPMC9034672 | biostudies-literature | 2022 May
REPOSITORIES: biostudies-literature
Cui Li-Min LM Jiang Jian-Ye JY Hu Ning-Ning NN Zou Hong-En HE Zhao Bao-Zhen BZ Han Cong-Ying CY Yang Kai K Wang Yi-Peng YP Xing Huan-Xia HX
Molecular genetics & genomic medicine 20220228 5
Dystrophic epidermolysis bullosa (DEB) is a series of severe genetic conditions affecting skin and nails caused by mutations in the COL7A1 gene. DEB has a strong phenotypic variability. In the present study, we recruited a case with a boy exhibiting typical DEB indication, and performed a clinical, genetic, and experimental investigation, followed by a prenatal diagnosis on their current pregnancy. Whole exome sequencing identified a novel compound heterozygous variation in COL7A1, consisting of ...[more]