Cross-sectional Neuromuscular Phenotyping Study of Patients With Arhinia With SMCHD1 Variants.
Payam MohasselNing ChangKaoru InoueAngela DelaneyYing HuSandra DonkervoortDimah SaadeB Jeanne BilliouxBrooke MeaderRita VolochayevChamindra G KonersmanAngela M KaindlChie-Hee ChoBianca E RussellAdrian RodriguezK Wade FosterA Reghan FoleySteven A MoorePeter L JonesCarsten G BonnemannTakako JonesNatalie D ShawPublished in: Neurology (2022)
locus implies the presence of novel disease-modifying factors that seem to operate as a switch, resulting in one phenotype and not the other. Identification and further understanding of these disease-modifying factors will provide valuable insight with therapeutic implications for both diseases.