A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes

ABSTRACT A 33‐year‐old man presented with short stature, thin build, hearing impairment, Rieger anomaly, and a history of inguinal hernia. He also exhibited characteristic facies, including a triangular face with a small chin, deeply set eyes, and low‐set ears. He was born with intrauterine growth r...

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Bibliographic Details
Main Authors: Kumiko Tajima, Yushi Hirota, Tomofumi Takayoshi, Wataru Ogawa
Format: Article
Language:English
Published: Wiley 2025-08-01
Series:Journal of Diabetes Investigation
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Online Access:https://doi.org/10.1111/jdi.70088
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