Rubenstein-Taybi Syndrome April is diagnosed with Rubinstein
Por um escritor misterioso
Last updated 16 maio 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
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
The natural history of adults with Rubinstein-Taybi syndrome: a families-reported experience
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
Rubinstein-Taybi Syndrome: A case report
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi syndrome: A report of two siblings with unreported cutaneous stigmata - Indian Journal of Dermatology, Venereology and Leprology
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