Associated Papers
[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Gan L et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2025
KBTBD2 controls bone development by regulating IGF-1 signaling during osteoblast differentiation.
Xun Y et al.
Cell Death and Differentiation, 2025
39562829 (PubMed )
Supplement: 41418_2024_1416_MOESM1_ESM.pdf
SHORT syndrome in an adult Brazilian patient.
Gonçalves ACG et al.
American Journal of Medical Genetics. Part A, 2022
Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.
Liu T et al.
Nature Communications, 2022
35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1
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
Contribution of gene mutations to Silver-Russell syndrome phenotype: multigene sequencing analysis in 92 etiology-unknown patients.
Inoue T et al.
Clinical Epigenetics, 2020
Clinical and Molecular Prevalence of Lipodystrophy in an Unascertained Large Clinical Care Cohort.
Gonzaga-Jauregui C et al.
Diabetes, 2020
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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