Rubinstein-Taybi syndrome: MedlinePlus Genetics
Por um escritor misterioso
Last updated 07 junho 2024
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.
Frontiers Behavioral and neuropsychiatric challenges across the
Chromosome 16p13.3 Deletion Syndrome, Proximal disease: Malacards
Hands and feet in RTS. Broad thumbs, broad terminal phalanges were
Chromosome 16: MedlinePlus Genetics
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
Exon deletions of the EP300 and CREBBP genes in two children with
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Frontiers Behavioral and neuropsychiatric challenges across the
Rubinstein-Taybi Syndrome: A case report
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