facioscapulohumeral muscular dystrophy

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)
Yi Dai, Pidong Li, Zhiqiang Wang, Fan Liang, Fan Yang, Li Fang, Yu Huang, Shangzhi Huang, Jiapeng Zhou, Depeng Wang, Liying Cui, Kai Wang

Journal of Medical Genetics Feb 2020, 57 (2) 109-120; DOI: 10.1136/jmedgenet-2019-106078
Digenic inheritance in medical genetics
Alejandro A Schäffer

Journal of Medical Genetics Oct 2013, 50 (10) 641-652; DOI: 10.1136/jmedgenet-2013-101713

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facioscapulohumeral muscular dystrophy