Rubinstein-Taybi Syndrome
Por um escritor misterioso
Last updated 13 março 2025


High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Clinical photos of the patients. (a) Case 1: Dysmorphic facial features

Rubinstein–Taybi syndrome - Wikipedia

A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot

Rubinstein Taybi Syndrome Awareness RTS Hearts and Ribbon Sweatshirt : Clothing, Shoes & Jewelry
Rubinstein Taybi California

Rubinstein-Taybi Syndrome

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Rubinstein-Taybi Syndrome

Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Rubinstein-Taybi Syndrome (RTS) Event at the Newport Aquarium – OhioF2F
The - The Rubinstein-Taybi Syndrome Children's Foundation
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First case of Rubinstein–Taybi syndrome with desquamation associated with a novel mutation in the bromodomain of the CREBBP gene - Wang - 2019 - Clinical and Experimental Dermatology - Wiley Online Library13 março 2025
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Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics13 março 2025
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PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report13 março 2025
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Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared13 março 2025
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Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome? - Wójcik - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library13 março 2025
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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 Library13 março 2025
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Mosaic CREBBP mutation causes overlapping clinical features of13 março 2025
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Molecular studies in 10 cases of Rubinstein-Taybi syndrome13 março 2025
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Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of13 março 2025
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