Associated Papers
Identification of A Novel Mutation of SHORT Syndrome: A Case Report.
Huynh QTV et al.
Clinical Case Reports, 2025
SHORT syndrome in an adult Brazilian patient.
Gonçalves ACG et al.
American Journal of Medical Genetics. Part A, 2022
The first SHORT syndrome in a Taiwanese boy: A case report and review of the literature.
Lee CL et al.
Molecular Genetics and Metabolism Reports, 2021
Transient Neonatal Diabetes Mellitus in SHORT Syndrome: A Case Report.
Kim SH et al.
Frontiers in Pediatrics, 2021
SHORT syndrome in two Chinese girls: A case report and review of the literature.
Zhang Y et al.
Molecular Genetics & Genomic Medicine, 2020
SHORT syndrome in a two-year-old girl - case report.
Klatka M et al.
Italian Journal of Pediatrics, 2017
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Thauvin-Robinet C et al.
American Journal of Human Genetics, 2013
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