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