Phenotypic Variability of 17q12 Microdeletion Syndrome – Three Cases and Review of Literature

Chromosome 17q12 microdeletion syndrome is a contiguous gene deletion syndrome caused by an 1–2 Mb loss, characterized by multicystic dysplastic kidneys or other urinary system anomalies starting in utero, including autism or maturity-onset diabetes of the young in its postnatal phenotype. Here, we...

Descripción completa

Detalles Bibliográficos
Autores principales: Țuțulan-Cuniță, A, Pavel, AG, Dimos, L, Nedelea, M, Ursuleanu, A, Neacșu, AT, Budișteanu, M, Stambouli, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524179/
https://www.ncbi.nlm.nih.gov/pubmed/36249519
http://dx.doi.org/10.2478/bjmg-2021-0025

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9524179/
https://www.ncbi.nlm.nih.gov/pubmed/36249519
http://dx.doi.org/10.2478/bjmg-2021-0025

Ejemplares similares