Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein
Por um escritor misterioso
Last updated 30 janeiro 2025
April is diagnosed with Rubinstein-Taybi syndrome. She is nonverbal and not yet able to communicate verbally. Her sister, Rachel, is studying to become a
PDF) Rubinstein-Taybi syndrome medical guidelines
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
Rubinstein-Taybi Syndrome: A case report
Rubinstein-Taybi Syndrome: UK RTS Support Group Conference on 9th June 2018
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
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 in the CREBBP gene.
What is RTS – RTS – Warrior
The Rubinstein-Taybi Syndrome Children's Foundation
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
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
Infantile glaucoma in Rubinstein–Taybi syndrome
Will our daughter ever learn to speak? - Rubinstein-Taybi Syndrome
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