Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases.

Abstract excerpt

This study aims to expand the spectrum of Coffin-Siris syndrome (CSS), a rare and heterogeneous disorder, by thoroughly discussing its genetic, dysmorphic, and endocrine features through new cases and contributing to the literature. Eight patients who were referred to the genetics clinic with various complaints and subsequently diagnosed with CSS through microarray or clinical exome sequencing analyses were...

Topics

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

• Share to Abnormalities, Multiple
• Share to DNA-Binding Proteins