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rubinstein taybi

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

Por um escritor misterioso

Descrição
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
IJMS, Free Full-Text
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
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
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Dysmorphic and skeletal features of Rubinstein‐Taybi syndrome patients.
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
IJMS, Free Full-Text
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
IJMS, Free Full-Text
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation
PDF) Rubinstein-Taybi syndrome medical guidelines
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
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