Genetic of preimplantation diagnosis of dysmorphic facial features and intellectual developmental disorder (CHDFIDD) without congenital heart defects
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1863
Abstract: Cyclin‐dependent kinase 13 plays a critical role in the regulation of gene transcription. Recent evidence suggests that heterozygous variants in CDK13 are associated with a syndromic form of mental deficiency and developmental delay, which is… read more here.
Keywords: facial features; features intellectual; preimplantation diagnosis; dysmorphic facial ... See more keywords
Mouse Model of Congenital Heart Defects, Dysmorphic Facial Features and Intellectual Developmental Disorders as a Result of Non-functional CDK13
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2019.00155
Abstract: Congenital heart defects, dysmorphic facial features and intellectual developmental disorders (CHDFIDD) syndrome in humans was recently associated with mutation in CDK13 gene. In order to assess the loss of function of Cdk13 during mouse development,… read more here.
Keywords: cdk13; defects dysmorphic; heart; dysmorphic facial ... See more keywords