Associated Papers
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
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
Mutations in PIK3R1 cause SHORT syndrome.
Dyment DA et al.
American Journal of Human Genetics, 2013
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