Rubinstein–Taybi syndrome in diverse populations - Tekendo

Summary of deletion results. (a) Large deletions. A schematic

Hand X-ray showed broad and short terminal phalanges and triangular

Genes, Free Full-Text

Microsatellite map of the cytogenetic band 16p13.3 region. (A) Position

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

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome - Sheppard - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

Achievements - Children's Specialty Group - Norfolk, VA

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

Genes, Free Full-Text