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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...

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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

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