Novel truncating PPM1D mutation in a patient with intellectual disability.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2018.05.006
Abstract: Truncating mutations in the last and penultimate exons of the PPM1D gene were recently described as a cause for mild to severe intellectual disability in fourteen patients. Feeding difficulties, periods of fever and vomiting as… read more here.
Keywords: novel truncating; intellectual disability; truncating ppm1d; mutation ... See more keywords
Two novel truncating variants of the ASPM gene identified in a nonconsanguineous Chinese family associated with primary microcephaly
Sign Up to like & getrecommendations! Published in 2021 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000395
Abstract: Primary autosomal recessive microcephaly 5 (MCPH5) is a rare neurodevelopmental disorder with a relatively high incidence in regions where consanguineous marriage is widely practiced; So far, only a few MCPH5 cases have been reported from… read more here.
Keywords: two novel; novel truncating; truncating variants; aspm gene ... See more keywords
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13030411
Abstract: Anterior segment dysgenesis (ASD) encompasses a wide spectrum of developmental abnormalities of the anterior ocular segment, including congenital cataract, iris hypoplasia, aniridia, iridocorneal synechiae, as well as Peters, Axenfeld, and Rieger anomalies. Here, we report… read more here.
Keywords: truncating variant; novel truncating; segment dysgenesis; anterior segment ... See more keywords