Dual Diagnosis of Sifrim-Hitz-Weiss Syndrome and Neurofibromatosis Type 1: Expanding the Phenotype of Cardiac Features in Sifrim-Hitz-Weiss Syndrome and Quick Literature Review.

Abstract excerpt

Sifrim-Hitz-Weiss syndrome (SIHIWES) is a rare autosomal dominant disorder characterized by neurodevelopmental delay and variable congenital defects, including cardiac and skeletal, caused by mutations in the CHD4 gene. Neurofibromatosis type 1 (NF1) is a well-known disease characterized by cafe-au-lait spots and fibromatous tumors of the skin caused by heterozygous mutations in the NF1 gene. We report a male...

Topics

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

• Share to Cafe-au-Lait Spots
• Share to Exome Sequencing
• Share to Heterozygote