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rubinstein taybi

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Por um escritor misterioso

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Background This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein–Taybi syndrome. Methods Case report of a 9-year-old boy. Results We described the patient’s clinical manifestations in detail, and found that in addition to the typical systemic manifestations of the syndrome, the outstanding manifestation of the child was severe intellectual deficiency and prominent ocular abnormalities. Whole-exome sequencing and sanger sequencing were performed on the patient and his parents, a large intragenic deletion, covering the exon 1 region and part of the intron 1 region of the TRAP1 gene, and the entire region from intron 27 to exon 30 of the CREBBP gene (chr16:3745393-3783894) was identified on the patient. This mutation affected the CREBBP histone acetyltransferase (HAT) domain. Conclusions This findings in our patient add to the spectrum of genetic variants described in Rubinstein–Taybi syndrome and present a RSTS patient with various ocular anomalies including early onset glaucoma.
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Genes, Free Full-Text
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Structure of CBP and p300. The CBP protein is composed of 2442 amino
A novel CREBBP mutation and its phenotype in a case of Rubinstein
(PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Distribution of CREBBP domains and mutations in our patient (in green)
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Frontiers 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
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Genes, Free Full-Text
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
A novel CREBBP mutation and its phenotype in a case of Rubinstein
Cancers, Free Full-Text
A novel CREBBP mutation and its phenotype in a case of Rubinstein
IJMS, Free Full-Text
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