Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
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Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Genes, Free Full-Text
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Rubinstein-Taybi Syndrome: A Rare Case Report
PDF) Oro-dental features as useful diagnostic tool in Rubinstein–Taybi syndrome
Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor
4 Newborn with Rubinstein-Taybi syndrome showing microcephaly, frontal
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Dermatologic Manifestations of Rubinstein-Taybi Syndrome Clinical Presentation: History, Physical Examination, Complications
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
Dermatologic Manifestations of Rubinstein-Taybi Syndrome: Background, Pathophysiology, Etiology
Details of all reported patients with pilomatricomas and Rubinstein-Taybi syndrome.
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