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Article

Treatment of a case of severe insulin resistance as a result of a PIK3R1 mutation with a sodium-glucose cotransporter 2 inhibitor.

Journal of diabetes investigation - 1 Sept 2018

Hamaguchi Tetsushi, Hirota Yushi, Takeuchi Takehito, Nakagawa Yasushi, Matsuoka Atsuko, Matsumoto Masaaki, Awano Hiroyuki, Iijima Kazumoto, Cha Pei Chieng, Satake Wataru, Toda Tatsushi, Ogawa Wataru

Abstract excerpt

A Japanese woman aged in her late 30s with severe insulin resistance and bodily features including a triangular face, prominent forehead, small chin, large and low-set ears, and ocular depression was investigated. A similar phenotype was not observed in other family members with the exception of her son, suggesting that the condition was caused by a de novo mutation that was transmitted from mother to son. Exome...

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Identifiers

PMID: 29476696
DOI: 10.1111/jdi.12825
PMCID: PMC6123033

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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