Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype

Koolen‐de Vries syndrome (KdVS) is a rare genetic disorder caused by a de novo microdeletion in chromosomal region 17q21.31 encompassing KANSL1 or by a de novo intragenic pathogenic variant of KANSL1. KdVS is typically characterized by intellectual disability (ID), variable from mild to severe, deve...

Descripción completa

Detalles Bibliográficos
Autores principales: Farnè, Marianna, Bernardini, Laura, Capalbo, Anna, Cavarretta, Giusy, Torres, Barbara, Sanchini, Mariabeatrice, Fini, Sergio, Ferlini, Alessandra, Bigoni, Stefania
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2021
Materias:
Genetic Syndromes in Adults
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297928/
https://www.ncbi.nlm.nih.gov/pubmed/34665525
http://dx.doi.org/10.1002/ajmg.a.62536

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9297928/
https://www.ncbi.nlm.nih.gov/pubmed/34665525
http://dx.doi.org/10.1002/ajmg.a.62536

Ejemplares similares