Loss of Function Variants in the XPC Causes Severe Xeroderma Pigmentosum in Three Large Consanguineous Families.
Sign Up to like & getrecommendations! Published in 2021 at "Klinische Padiatrie"
DOI: 10.1055/a-1552-3788
Abstract: BACKGROUND Xeroderma pigmentosum (XP) is a rare recessively inherited disorder that presents clinical and genetic heterogeneity. Mutations in eight genes, of which seven are involved in nucleotide excision repair (NER) pathway have been reported to… read more here.
Keywords: large consanguineous; three large; xpc gene; xeroderma pigmentosum ... See more keywords
Identification of a Novel Nonsense ASPM Mutation in a Large Consanguineous Pakistani Family Using Targeted Next-Generation Sequencing.
Sign Up to like & getrecommendations! Published in 2018 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2017.0229
Abstract: AIMS To identify the pathogenic mutation underlying microcephaly primary hereditary (MCPH) in a large consanguineous Pakistani family. METHODS A five-generation family with an autosomal recessive transmission of MCPH was recruited. Targeted next-generation DNA sequencing was… read more here.
Keywords: large consanguineous; family; generation; aspm ... See more keywords