Two nonsense GLI3 variants are associated with polydactyly and syndactyly in two families by affecting the sonic hedgehog signaling pathway.
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DOI: 10.1002/mgg3.1895
Abstract: BACKGROUND Polydactyly and syndactyly are congenital limb deformities, segregating in an autosomal-dominant fashion. The variants in the GLI3 gene are closely related to congenital limb malformations. However, the causes underlying polydactyly and syndactyly are not… read more here.
Keywords: gli3; two families; polydactyly syndactyly; gli3 variant ... See more keywords
Maternal exposure to ambient SO2 and risk of polydactyly and syndactyly: a population-based case-control study in Liaoning Province, China
Sign Up to like & getrecommendations! Published in 2020 at "Environmental Science and Pollution Research"
DOI: 10.1007/s11356-020-11351-5
Abstract: Evidence links exposure to maternal sulfur dioxide (SO2) and the risk of limb defects have been inconsistent. To investigate associations between SO2 exposure during preconception and the first trimester and risks of polydactyly and syndactyly.… read more here.
Keywords: risk; syndactyly; so2; exposure ... See more keywords
Association between maternal exposure to PM10 and polydactyly and syndactyly: A population-based case-control study in Liaoning province, China.
Sign Up to like & getrecommendations! Published in 2020 at "Environmental research"
DOI: 10.1016/j.envres.2020.109643
Abstract: BACKGROUND The number of studies on air pollution with birth defects as the primary outcome has increased dramatically over the past two decades, but the potential role of specific air pollutants in congenital limb anomalies… read more here.
Keywords: exposure; study; first trimester; syndactyly population ... See more keywords