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

Figure 1. [Facial appearance of a girl age 11 years with FHS (SRCAP pathogenic variant p.Arg2444Ter)]. - GeneReviews® - NCBI Bookshelf

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

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

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

PDF) Rubinstein-Taybi syndrome in diverse populations

Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability

Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf

A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics

SciELO - Brasil - Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report Prosthetic rehabilitation of a child with Rubinstein-Taybi Syndrome after dental trauma: case report

Approach to inherited hypertrichosis: A brief review - Indian