Rubinstein–Taybi syndrome in diverse populations - Tekendo
Por um escritor misterioso
Last updated 25 abril 2025


A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library

PDF) Rubinstein-Taybi syndrome in diverse populations

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

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

PDF) Rubinstein-Taybi Syndrome: A Case Report

Profile of the microarray analysis showing the deleted region as

Psychiatric Profile in Rubinstein-Taybi Syndrome

Generative Methods for Pediatric Genetics Education

Facial clues to the photosensitive trichothiodystrophy phenotype in childhood

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. - Abstract - Europe PMC

PDF) Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update

Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
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