Rubinstein - Taybi syndrome: phenotypic characteristics
Por um escritor misterioso
Last updated 10 novembro 2024
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
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Empirical Literature on Rubinstein-Taybi Syndrome (RTS) Meeting the
Rubinstein-Taybi Syndrome: A case report
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
IJMS, Free Full-Text
Rubinstein–Taybi syndrome European Journal of Human Genetics
Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
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