Atypical diabetes arising from SHORT syndrome: a case report

Short stature, joint hyperextension, ocular hypotension, Rieger abnormalities, and delayed tooth eruption (SHORT) syndrom is a rare primary autosomal dominant genetic disorder mainly caused by pathogenic loss-of-function variants in the phosphoinositide-3-kinase regulatory subunit 1 (PIK3R1) gene. W...

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Bibliographic Details
Main Authors: Aili Wang, Miao Xu, Li Li, Jialin Li
Format: Article
Language:English
Published: Frontiers Media S.A. 2024-12-01
Series:Frontiers in Endocrinology
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Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2024.1467364/full
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