Biallelic variants in ETV2 in a family with congenital heart defects, vertebral abnormalities and preaxial polydactyly.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.104124
Abstract: The combination of congenital heart defects and vertebral anomalies with or without additional abnormalities has been reported in many genetic disorders. We describe a family in which four consecutive pregnancies were characterized by the combination… read more here.
Keywords: defects vertebral; heart; variants etv2; congenital heart ... See more keywords
Large preaxial polydactyly with intraepidermal bulla: an unusual form of polydactyly
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-228183
Abstract: Polydactyly is a condition in which the supernumerary digits or duplications of digital parts manifest either as an integral part or in association with ∼300 well-defined syndromes. Polydactyly is the most frequently observed congenital limb… read more here.
Keywords: polydactyly intraepidermal; intraepidermal bulla; bulla unusual; large preaxial ... See more keywords
Identity-by-descent refines mapping of candidate regions for preaxial polydactyly II /III in a large Chinese pedigree
Sign Up to like & getrecommendations! Published in 2017 at "Hereditas"
DOI: 10.1186/s41065-017-0040-6
Abstract: Preaxial polydactyly (PPD) is congenital hand malformation characterized by the duplication of digit. Herein, we scan the genome-wide SNPs for a large Chinese family with PPD-II/III. We employ the refined IBD algorithm to identify the… read more here.
Keywords: large chinese; identity; preaxial polydactyly; mapping candidate ... See more keywords
GLIS Family Zinc Finger 1 was First Linked With Preaxial Polydactyly I in Humans by Stepwise Genetic Analysis
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2021.781388
Abstract: Background: Preaxial polydactyly (PPD) is one of the most common developmental malformations, with a prevalence of 0.8–1.4% in Asians. PPD is divided into four types, PPD I–IV, and PPD I is the most frequent type.… read more here.
Keywords: glis1; family; etiology; ppd ... See more keywords