Associated Papers
PIK3R1 mutations in individuals with insulin resistance or growth retardation: Case series and in silico functional analysis.
Takayoshi T et al.
Journal of Diabetes Investigation, 2025
A case of SHORT syndrome with a novel genetic mutation diagnosed 19 years after the onset of diabetes.
Tajima K et al.
Journal of Diabetes Investigation, 2025
Diabetes mellitus in SHORT syndrome managed with multi-agent oral therapies: a case report and literature review.
Yang Y et al.
Therapeutic Advances in Endocrinology and Metabolism, 2025
A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature.
Sun L et al.
Bmc Medical Genetics, 2020
SHORT syndrome in a two-year-old girl - case report.
Klatka M et al.
Italian Journal of Pediatrics, 2017
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