Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
Por um escritor misterioso
Last updated 23 março 2025


File:Rubinstein-Taybi Syndrome1.jpg - Wikipedia

PDF) Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals

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

Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Congenital Malformations and Syndromes: Early Diagnosis and Prognosis in Neonatal Medicine

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

The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP

Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire

Atlas of Human Malformation Syndromes in Diverse Populations

Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
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