Rubinstein-Taybi Syndrome 1

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Last updated 20 setembro 2024

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect

Rubinstein-Taybi Syndrome: Child Characteristics and Parental Perception Noorwijkerhout Ina van Berckelaer-Onnes & Josette Wulffaert. - ppt download

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

Rubinstein-Taybi Syndrome: A case report

Special Needs Spotlight

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics

Forgotten Diseases Research Foundation

Rubinstein-Taybi Syndrome: A Complete Overview — DermNet

Rubinstein-Taybi syndrome: MedlinePlus Genetics

a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening

Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect

Coloboma Associated With Rubinstein-Taybi Syndrome

Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010

Rubinstein-Taybi Syndrome

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