[Neurofibromatosis-1 microdeletion syndrome.]
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DOI: 10.1556/650.2022.32673
Abstract: Neurofibromatosis type 1 is a clinically extremely heterogeneous neurocutaneous disorder, inherited in autosomal dominant manner. It is primarily caused by intragenic loss-of-function mutations in the NF1 gene, however, as a result of improvements in molecular… read more here.
Keywords: gene; microdeletion syndrome; neurofibromatosis microdeletion; neurofibromatosis ... See more keywords