De novo variants and recombination at 4q35: Hints for preimplantation genetic testing in facioscapulohumeral muscular dystrophy
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DOI: 10.1111/cge.14250
Abstract: Facioscapulohumeral muscular dystrophy (FSHD) has been associated with the deletion of an integral number of 3.3 kb units of the polymorphic D4Z4 repeat array at 4q35. The prenatal identification of this defect can be carried… read more here.
Keywords: preimplantation genetic; facioscapulohumeral muscular; recombination 4q35; genetic testing ... See more keywords