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Characteristic facial appearance with downward slant of palpebral
Rubinstein Taybi California
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
What Is Rubinstein-Taybi Syndrome? - StoryMD
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC
Rubinstein - Taybi syndrome: phenotypic characteristics
Rubinstein-Taybi syndrome, medical and dental care for special needs patients: Clinical case report
Rubinstein-Taybi Syndrome
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome - ScienceDirect
Patent Ductus Arteriousus Device Closure in an Infant with Rubinstein–Taybi Syndrome, Iranian Journal of Pediatrics
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
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