Cockayne Syndrome: Most Up-to-Date Encyclopedia, News & Reviews

Severe persistent pulmonary hypertension in a neonate with

A novel mutation c.4003 G>C in the CREBBP gene in an adult female with Rubinstein–Taybi syndrome presenting with subtle dysmorphic features - Li - 2010 - American Journal of Medical Genetics Part

Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome

Extending the clinical and genetic spectrum of ARID2 related intellectual disability. A case series of 7 patients - ScienceDirect

Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature

Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library

Identification of de novo EP300 and PLAU variants in a patient

(PDF) Identification of de novo EP300 and PLAU variants in a

PDF) Identification of de novo EP300 and PLAU variants in a