A novel POU1F1 pathogenic variant: Two familial case reports with phenotype expansion
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Genetics"
DOI: 10.1111/cge.14043
Abstract: Up: A schematic-diagram of POU1F1-gene. Down right: an electrophoretogram of the detected novel pathogenic-variant in comparison with wild-type POU1F1 exon-6 sequence. Down left: Family pedigree of the two-siblings reported. read more here.
Keywords: pathogenic variant; variant two; pou1f1; pou1f1 pathogenic ... See more keywords
Identification of HLA‐C*03:599 novel allele variant in two South Indian individuals in a Brahmin family
Sign Up to like & getrecommendations! Published in 2022 at "HLA"
DOI: 10.1111/tan.14815
Abstract: The novel allele HLA‐C*03:599 as compared with HLA‐C*03:04:01:02 displays polymorphism at position; gDNA 1618 (G>T). read more here.
Keywords: hla 599; 599 novel; variant two; novel allele ... See more keywords
NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23063414
Abstract: Thyroid hemiagenesis (THA) is an inborn absence of one thyroid lobe of largely unknown etiopathogenesis. The aim of the study was to reveal genetic factors responsible for thyroid maldevelopment in two siblings with THA. None… read more here.
Keywords: two siblings; nkx2 variant; variant two; thyroid hemiagenesis ... See more keywords