Maternal transmission of a mild Coffin–Siris syndrome phenotype caused by a SOX11 missense variant
Sign Up to like & getrecommendations! Published in 2021 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-021-00865-2
Abstract: Here we report for the first time on the maternal transmission of mild Coffin–Siris syndrome (CSS) caused by a SOX11 missense variant. We present two sisters with intellectual disability and muscular hypotonia born to non-consanguineous… read more here.
Keywords: maternal transmission; missense variant; coffin siris; mild coffin ... See more keywords
Maternal transmission of RBP4 congenital eye disease: can Vitamin A help?
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2141793
Abstract: We recently witnessed a family with recurrent fetal anophthalmia and maternally transmitted RBP4 (retinol-binding protein 4) mutation. The pathophysiology behind this congenital malformation and the importance of maternal transmission of mutation in causing eye malformation… read more here.
Keywords: maternal transmission; transmission; congenital eye; transmission rbp4 ... See more keywords