Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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Last updated 31 março 2025


Molecular Genetics & Genomic Medicine: Vol 7, No 12

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

A novel CREBBP mutation and its phenotype in a case of Rubinstein

Rubinstein‐Taybi syndrome in Chinese population with four novel

PDF) Clinical exome sequencing identifies novel CREBBP variants in

Molecular Genetics & Genomic Medicine: Vol 7, No 12

New insights into genetic variant spectrum and genotype–phenotype

Genetic Basis for Congenital Heart Disease: Revisited: A

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder

Clinical exome sequencing identifies novel CREBBP variants in 18
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