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
A Diagnosis to Consider in an Adult Patient with Facial Features and Intellectual Disability: Williams Syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Korean Journal of Family Medicine"
DOI: 10.4082/kjfm.2017.38.2.102
Abstract: Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion… read more here.
Keywords: facial features; diagnosis; intellectual disability; williams syndrome ... See more keywords