Different de novo mutations in the NF1 gene in a family with neurofibromatosis type 1
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DOI: 10.1111/pde.15734
Abstract: The criteria for clinical diagnosis of neurofibromatosis type 1 (NF1) are not sensitive in young children. Recognition is easier when one of their parents has been diagnosed with this condition, and the causal mutation is… read more here.
Keywords: novo mutations; nf1 gene; different novo; mutations nf1 ... See more keywords