Rubinstein-Taybi syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 01 janeiro 2025
Rubinstein-Taybi syndrome is a condition characterized by short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes . Explore symptoms, inheritance, genetics of this condition.
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
Frontiers Behavioral and neuropsychiatric challenges across the
Analysis of mutations within the intron20 splice donor site of
Rubinstein–Taybi syndrome - Wikipedia
CREBBP mutations in individuals without Rubinstein–Taybi syndrome
Frontiers Behavioral and neuropsychiatric challenges across the
Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards
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Exon deletions of the EP300 and CREBBP genes in two children with
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