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


PDF) Clinical exome sequencing identifies novel CREBBP variants in

First case of Rubinstein–Taybi syndrome with desquamation

PDF) Identification of the genetic basis of sporadic polydactyly

Genes, Free Full-Text

IJMS, Free Full-Text

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With

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

A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with

Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf

Analysis of mutations within the intron20 splice donor site of

Rubinstein–Taybi syndrome in diverse populations - Tekendo

Molecular Genetics & Genomic Medicine: Vol 7, No 12

Clinical exome sequencing identifies novel CREBBP variants in 18
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