Rubinstein–Taybi syndrome associated with Chiari type I malformation caused by a large 16p13.3 microdeletion: A contiguous gene syndrome?

Abstract excerpt

Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Congenital limb and hand anomalies
• Share to Genomic variations and chromosomal abnormalities
• Share to Orthopedic Surgery and Rehabilitation