RUBINSTEIN TAYBI SYNDROME An autosomal dominant disease associated
Por um escritor misterioso
Last updated 09 junho 2024
Clinical characteristics of present cohort of patients with
Rubinstein-Taybi Syndrome 1
Figure 1 from Rubinstein-Taybi Syndrome in a 19-years old boy.
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 European Journal of Human Genetics
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
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