Clinical and Genetic Profile of One Molecularly Confirmed and One Clinically Suspected Case of LZTR1 -Related Noonan Syndrome.

Abstract excerpt

Noonan syndrome (NS) is a clinically heterogeneous condition caused by pathogenic variants in genes of the RAS/MAPK signaling pathway, presenting as a spectrum of phenotypic features rather than a single uniform disorder. We report two unrelated female pediatric patients evaluated for LZTR1-related NS following whole-exome sequencing. The first patient presented with isolated short stature, subtle dysmorphic...

Topics

• Humans
• Noonan Syndrome
• Female
• Transcription Factors
• Phenotype
• Mutation
• Exome Sequencing