title: Disease-causing enhancer variants: a question of penetrance.
authors.affiliation: Università di Milano-Bicocca, Milano, Italy.
authors.forename: Sergio
authors.initials: S
authors.lastname: Ottolenghi
mesh_terms: D005260:Female; D006627:Hirschsprung Disease; D006801:Humans; D008297:Male; D012045:Regulatory Sequences, Nucleic Acid; D055757:SOXE Transcription Factors / Q000235:genetics*; D014849:Waardenburg Syndrome / Q000235:genetics*
chemical_list: C527923:SOX10 protein, human; D055757:SOXE Transcription Factors