Rubinstein-Taybi Syndrome
Por um escritor misterioso
Descrição
Dandy walker variant an association with Rubinstein Taybi syndrome
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Rubinstein-Taybi Syndrome by Alexandra Wilegus
Key Facts
Dentocyclopedia - rubinstein taybi syndrome
Rubinstein-Taybi syndrome: Dental manifestations and management
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
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
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
Rubinstein-Taybi syndrome associated with breast cancer — a case report
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Rubinstein - Taybi Syndrome (Rubinstein syndrome, broad thumb-hallux syndrome, broad thumbs and great toes, characteristic facies and mental retardation) - Dermatology Advisor
Thyroid Hypoplasia as a Cause of Congenital Hypothyroidism in Monozygotic Twins Concordant for Rubinstein-Taybi Syndrome. – ScienceOpen
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
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