Familial evaluation reveals a distinct genetic cause in a large Spanish family with neurofibromatosis 1 and hypertrophic cardiomyopathy.
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DOI: 10.1016/j.gene.2020.144658
Abstract: Neurofibromatosis 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, intertriginous freckling, and multiple neurofibromas. Classically, it has been described that hypertrophic cardiomyopathy (HCM) may be a cardiovascular manifestation of neurofibromatosis 1, although… read more here.
Keywords: large spanish; hypertrophic cardiomyopathy; spanish family; neurofibromatosis ... See more keywords