Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
Author:
Affiliation:
1. Department of Pediatrics Seoul National University Hospital Seoul National University College of Medicine Seoul Korea
2. Rare Disease Center Seoul National University Hospital Seoul Korea
Publisher
Wiley
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1791
Reference37 articles.
1. Rubinstein‐Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach;Ajmone P. F.;American Journal of Medical Genetics,2018
2. iPSC-derived neurons of CREBBP - and EP300 -mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability
3. A case of rubinstein‐taybi syndrome;Baik W. H.;Journal of Korean Pediatric Society,1984
4. Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
5. Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein–Taybi syndrome
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1. Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome – A case report and review of literature;Ophthalmic Genetics;2023-04-05
2. A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome;BMC Medical Genomics;2022-08-19
3. Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant;Frontiers in Genetics;2022-04-08
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