Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP
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Descrição
Localisation of nine CREBBP mutations (six of them of novel
Facial morphology of the presently described patient with the CREBBP
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
IJMS, Free Full-Text
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
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