Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
Por um escritor misterioso
Last updated 24 março 2025


Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

PDF) New dysmorphic features in Rubinstein-Taybi syndrome

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 Library

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

Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations

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

IJMS, Free Full-Text

PDF) Exogenous and endogenous HDAC inhibitor effects in Rubinstein-Taybi syndrome models

Rubinstein-Taybi syndrome: MedlinePlus Genetics

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

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

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

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

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