Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Human genetics"
DOI: 10.1007/s00439-021-02301-3
Abstract: Waardenburg syndrome (WS) is a phenotypically and genetically heterogeneous disorder characterised by hearing loss and pigmentary abnormalities. We clarified the clinical and genetic features in 90 Chinese WS probands. Disease-causing variants were detected in 55… read more here.
Keywords: genotype phenotype; chinese probands; phenotype relationships; waardenburg syndrome ... See more keywords
Analysis of genotype sequence data reveals the origin and evolutionary separation of Hawaiian hoary bat populations.
Sign Up to like & getrecommendations! Published in 2020 at "Genome biology and evolution"
DOI: 10.1093/gbe/evaa137
Abstract: We examine the genetic history and population status of Hawaiian Hoary bats (Lasiurus semotus), the most isolated bats on Earth, and their relationship to Northern Hoary bats (L. cinereus), through whole-genome analysis of single-nucleotide polymorphisms… read more here.
Keywords: analysis; bat; hoary bats; hawaiian hoary ... See more keywords
Analysis of genotype/phenotype correlations in Japanese patients with dyschromatosis symmetrica hereditaria
Sign Up to like & getrecommendations! Published in 2018 at "Nagoya Journal of Medical Science"
DOI: 10.18999/nagjms.80.2.267
Abstract: ABSTRACT Dyschromatosis symmetrica hereditaria (DSH) is one of the genetic pigmentation disorders and shows characteristic mixture of hyper- and hypo-pigmented small macules on the extremities. Heterozygous mutations in the adenosine deaminase acting on RNA1 gene… read more here.
Keywords: analysis genotype; dyschromatosis symmetrica; mutation; symmetrica hereditaria ... See more keywords