A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis

A case of familial recurrent 17q12 microdeletion syndrome presenting with severe diabetic ketoacidosis

Background. Heterozygous intragenic mutations of the hepatocyte nuclear factor 1 homeobox b gene (HNF1B) located on chromosome 17 and microdeletion of 17q12 region (17q12MD) leads to the complete loss of this gene, which causes renal cystic disease, diabetes mellitus (MODY5), hypomagnesemia,...

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Bibliographic Details
Main Authors: Can Aydın, Eylem Kıral, Ezgi Susam, Aslı Kavaz Tufan, Coskun Yarar, Nuran Çetin, Sinem Kocagil, Birgül Kırel
Format: Article
Language:English
Published: Hacettepe University Institute of Child Health 2022-06-01
Series:The Turkish Journal of Pediatrics
Subjects:
17q12 microdeletion
MODY5
intellecual disability
ketoacidosis
renal cyst
Online Access:https://turkjpediatr.org/article/view/182

Internet

https://turkjpediatr.org/article/view/182

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