Homozygous variants in the GDF1 gene related to recurrent right isomerism and complex CHD in two Indian families.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122001056
Abstract: Disorders of laterality are often associated with complex CHD. There is considerable debate about the appropriate terminology to describe these conditions. As our understanding of the genetic basis of these disorders improves, it is likely… read more here.
Keywords: isomerism; complex chd; gdf1 gene; variants gdf1 ... See more keywords
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2021-108271
Abstract: Background As a common type of asthenoteratozoospermia, multiple morphological abnormalities of the sperm flagella (MMAF) can cause male infertility. Previous studies have revealed genetic factors as a major cause of MMAF. The known MMAF-associated genes… read more here.
Keywords: akap3 induce; male infertility; variants akap3; homozygous variants ... See more keywords
Uniparental disomy screen of Irish rare disorder cohort unmasks homozygous variants of clinical significance in the TMCO1 and PRKRA genes
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.945296
Abstract: A uniparental disomy (UPD) screen using whole genome sequencing (WGS) data from 164 trios with rare disorders in the Irish population was performed to identify large runs of homozygosity of uniparental origin that may harbour… read more here.
Keywords: uniparental disomy; homozygous variants; prkra; chromosome ... See more keywords