Associated Papers
SHORT syndrome with microcephaly and developmental delay.
Patel V et al.
American Journal of Medical Genetics. Part A, 2023
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
Overlapping phenotypes between SHORT and Noonan syndromes in patients with PTPN11 pathogenic variants.
Ranza E et al.
Clinical Genetics, 2020
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
31164752 (PubMed )
Supplement: 41436_2019_566_MOESM2_ESM.xlsx › Sheet1
Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.
Solheim MH et al.
Diabetes, 2018
SHORT syndrome in a two-year-old girl - case report.
Klatka M et al.
Italian Journal of Pediatrics, 2017
PI3-kinase mutation linked to insulin and growth factor resistance in vivo.
Winnay JN et al.
The Journal of Clinical Investigation, 2016
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.
Thauvin-Robinet C et al.
American Journal of Human Genetics, 2013
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