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

Forgotten Diseases Research Foundation

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

Rubinstein-Taybi Syndrome 2 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

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

Identification of de novo EP300 and PLAU variants in a patient

Rubinstein-Taybi syndrome: principal oral and dental disorders and literature update

Approach to inherited hypertrichosis: A brief review - Indian