Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Por um escritor misterioso
Last updated 31 maio 2024
Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case
PDF) Rubinstein-Taybi Syndrome: A Case Report
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Clinical and Experimental Pediatrics
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
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
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
PDF) A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Cureus, Rubinstein-Taybi Syndrome Associated with Pituitary Macroadenoma: A Case Report
Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly
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