Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy.
Karine NguyenNatacha BroucqsaultCharlene ChaixStephane RocheJérôme D RobinCatherine VovanLaurene GerardAndré MégarbanéJon Andoni UrtizbereaRemi BellanceChristine BarnériasAlbert DavidBruno EymardMelanie FradinVéronique ManelSabrina SacconiVincent TiffreauFabien ZagnoliJean-Marie CuissetEmmanuelle Salort-CampanaShahram AttarianRafaëlle BernardNicolas LévyFrédérique MagdinierPublished in: Journal of medical genetics (2019)
Overall, this work underlines the complexity of these loci challenging the diagnosis and genetic counselling for this disease.