Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Por um escritor misterioso
Descrição
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
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Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case
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