Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American
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Last updated 19 novembro 2024
Forgotten Diseases Research Foundation
Rubinstein-Taybi syndrome: MedlinePlus Genetics
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
Rubinstein-Taybi syndrome with scoliosis treated with single-stage posterior spinal fusion: illustrative case in: Journal of Neurosurgery: Case Lessons Volume 1 Issue 11 (2021) Journals
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
UC UCEDD - It's happening! The Rubinstein-Taybi Syndrome (RTS) National Conference will take place June 21-24, 2023. We are very excited to welcome families of children and adults with RTS from across
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Psychiatric Profile in Rubinstein-Taybi Syndrome
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Low bone mineral density on DXA and slipped capital femoral epiphysis as rare presentation in a child with Rubinstein-Taybi syndrome
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