PDF) Rubinstein-Taybi syndrome in diverse populations

Forgotten Diseases Research Foundation

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

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

Cureus Barrett's Esophagus in Rubinstein-Taybi Syndrome

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

Cureus, Whole-Exome Sequencing Identified a Novel DYRK1A Variant in a Patient With Intellectual Developmental Disorder, Autosomal Dominant 7

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

Somatic and germ‐line mosaicism in Rubinstein–Taybi syndrome - Chiang - 2009 - American Journal of Medical Genetics Part A - Wiley Online Library

Expanding the phenotype associated to KMT2A variants: overlapping

Rubinstein-Taybi syndrome: principal oral and dental disorders and