Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Por um escritor misterioso
Descrição
PDF) Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: An update of the CREBBP deletion repertoire
PDF] Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
Benign and malignant tumors in Rubinstein–Taybi syndrome - Boot - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
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
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
RSTS Encyclopedia MDPI
CBP deficiency leads to HMT-mediated epigenetic modification. Induction
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
PDF) Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
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