A case with Rubinstein-Taybi syndrome: A novel frameshift mutation

Por um escritor misterioso
Last updated 21 março 2025
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
A novel frameshift mutation which is led to premature stop codon in CREBBP gene, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CRE BBP gene. Rubinstein-Taybi syndrome (RSTS) is a developmental disorder characterized by a wide spectrum of multiple congenital anomalies and cognitive impairment. RSTS is primarily due to mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases) genes. A 2 month-old boy had atypical facial findings such as low anterior hairline, triangular face, hirsutism on forehead, down-slanting palpebral fissures, beaked nose, broad nasal bridge, triangular mouth and pointed chin and skeletal finding including broad great thumbs and halluces, and accessory nipple. With this paper, we reported a novel frameshift mutation which is led to premature stop codon in CREBBP gene. As a result, c.2057dupC, reported in this paper enlarges the molecular spectrum of disease-causing CREBBP gene.
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Expanding the phenotypic spectrum in EP300‐related Rubinstein–Taybi syndrome - Solomon - 2015 - American Journal of Medical Genetics Part A - Wiley Online Library
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
rubinstein-taybi syndrome - List of Frontiers' open access articles
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein–Taybi syndrome
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
PDF) Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients Cristina Gervasini, Lucio Giordano, Paola Castronovo, Patrizia Colapietro, and Angelo Selicorni
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
IJMS, Free Full-Text
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
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 case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

© 2014-2025 renovateindia.wappzo.com. All rights reserved.