Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly

BACKGROUND: 16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity, and variable dysmorphism. Although this deletion is relatively rare among the general population, it is one of the serious known genetic aetiologies...

Descripción completa

Detalles Bibliográficos
Autores principales: Szelest, Monika, Stefaniak, Martyna, Ręka, Gabriela, Jaszczuk, Ilona, Lejman, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945342/
https://www.ncbi.nlm.nih.gov/pubmed/33691695
http://dx.doi.org/10.1186/s12920-021-00929-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945342/
https://www.ncbi.nlm.nih.gov/pubmed/33691695
http://dx.doi.org/10.1186/s12920-021-00929-8

Ejemplares similares