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

Rubinstein-Taybi Syndrome

Forgotten Diseases Research Foundation

Rubinstein Taybi syndrome causes, symptoms, diagnosis, treatment & prognosis

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

Figure 2. [Dorsal (A) and palmar (B)]. - GeneReviews® - NCBI Bookshelf

Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

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

Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome

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