Associated Papers
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
Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.
Bárcena C et al.
Bmc Medical Genetics, 2014
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