Facial features of Rubinstein-Taybi syndrome
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Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
RubinsteinTaybi syndrome - Public_munhcenter
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
IJMS, Free Full-Text
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein-Taybi syndrome 2 with cerebellar abnormality and neural tube defect. - Abstract - Europe PMC
Pediatric on Squares on X: Rubinstein Taybi Syndrome #Pediatric #Genetics # syndrome / X
JCDR - Rubinstein Taybi Syndrome, Oro-facio-dental findings
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