The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome.

This document is a letter that discusses the spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome. The authors present 21 new patients with the syndrome and refine the frequencies of cardiac defects associated with it. They disagree with some arguments made in a previous study regarding the pathogenicity of certain TRAF7 variants. The authors also provide additional information on the clinical features of the new cohort and acknowledge the support received for their research. The information in the document is based on diagnostic testing and genetic analysis of the patients. [Extracted from the article]