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Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome

BACKGROUND: Maturity-onset diabetes of the young type 5 (MODY5) is a rare subtype of MODYs. It is caused by mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B). 17q12 recurrent deletion syndrome usually results in MODY5 because of the deletion of HNF1B. These patients often have oth...

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Detalles Bibliográficos
Autores principales: Cheng, Ying, Zhong, Da-Peng, Ren, Li, Yang, Hang, Tian, Chen-Fu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8962578/
https://www.ncbi.nlm.nih.gov/pubmed/35346144
http://dx.doi.org/10.1186/s12902-022-00989-6