Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein
Por um escritor misterioso
Last updated 05 julho 2024
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
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
Understanding the role of social media in online health: A global perspective on online social support
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
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
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Rubinstein-Taybi syndrome: MedlinePlus Genetics
The Rubinstein-Taybi Syndrome Children's Foundation
Keloids in Rubinstein–Taybi syndrome: a clinical study - Kar - 2014 - British Journal of Dermatology - Wiley Online Library
Learning to Speak at Age 18 with a Sister Who Never Quits (Rubinstein-Taybi Syndrome)
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
PDF) Rubinstein-Taybi syndrome medical guidelines
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