A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part
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A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Chumei Li's research works McMaster University, Hamilton (McMaster) and other places
Marta Szybowska's research works University of Toronto, Toronto (U of T) and other places
Genes, Free Full-Text
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
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 diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Chumei Li's research works McMaster University, Hamilton (McMaster) and other places
Chumei Li's research works McMaster University, Hamilton (McMaster) and other places
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