Rubinstein-Taybi Syndrome

Rubinstein-Taybi Syndrome 1

Severe persistent pulmonary hypertension in a neonate with

A mosaic maternal splice donor mutation in the EHMT1 gene leads to aberrant transcripts and to Kleefstra syndrome in the offspring

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke–Hennekam syndrome - Nishi - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library

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

PDF) Rubinstein-Taybi syndrome: Dental manifestations and management

PDF) An unusual presentation of Rubinstein-Taybi Syndrome with bilateral postaxial polydactyly Corresponding author

PDF) Rubinstein-Taybi syndrome in diverse populations

Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways - Journal of Pediatric and Adolescent Gynecology

Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC