Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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Localisation of nine CREBBP mutations (six of them of novel
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
a,b: Patient A at 3 weeks; c,d: Patient B at 6 weeks, note the opening
IJMS, Free Full-Text
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Rubinstein-Taybi syndrome medical guidelines
Facial morphology of the presently described patient with the CREBBP
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Rubinstein–Taybi syndrome European Journal of Human Genetics
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