Rubinstein-Taybi Syndrome 1

Por um escritor misterioso

Last updated 18 junho 2024

Rubinstein-Taybi syndrome, medical and dental care for special needs patients: Clinical case report

Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

Figure 1 from Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome.

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics

Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Psychiatric Profile in Rubinstein-Taybi Syndrome

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

The Rubinstein-Taybi Syndrome Children's Foundation

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library

Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics

BJORL - Brazilian Journal of Otorhinolaryngology

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