PDF) Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: A case report

Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome

Exome Sequencing: Most Up-to-Date Encyclopedia, News & Reviews

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing – topic of research paper in Biological sciences. Download scholarly article

Deciphering the mutational signature of congenital limb malformations - ScienceDirect

Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect

Rubinstein-Taybi syndrome with agenesis of corpus callosum Mishra S, Agarwalla SK, Potpalle DR, Dash NN - J Pediatr Neurosci

Genetic Etiology of Left‐Sided Obstructive Heart Lesions: A Story in Development

PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant

Rubinstein-Taybi Syndrome

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Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family

Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH

Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family