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

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

Genes, Free Full-Text

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

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome - ScienceDirect

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

Cornelia de Lange Syndrome - GeneReviews® - NCBI Bookshelf

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

PDF) The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature

Beckwith-Wiedemann Syndrome - GeneReviews® - NCBI Bookshelf