A novel NFIA gene nonsense mutation in a Chinese patient with macrocephaly, corpus callosum hypoplasia, developmental delay, and dysmorphic features
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1492
Abstract: NFIA gene (OMIM*600727) has been shown to be associated with a syndrome of central nervous system malformations (corpus callosum and ventriculomegaly) with or without urinary tract defects(BRMUTD) (OMIM#613735) with a low incidence. read more here.
Keywords: gene nonsense; corpus callosum; nfia gene; nonsense mutation ... See more keywords
Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report
Sign Up to like & getrecommendations! Published in 2021 at "Iranian Journal of Public Health"
DOI: 10.18502/ijph.v50i6.6429
Abstract: Alopecia universalis (AU) congenital, known as generalized atrichia, is a severe form of autosomal recessive alopecia that results in complete hair loss of scalp and body. Mutations in the human hairless gene (HR) are associated… read more here.
Keywords: mutations alopecia; gene nonsense; hairless gene; nonsense mutations ... See more keywords