Atypical neurofibromatosis type 1 with unilateral limb hypertrophy mimicking overgrowth syndrome
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DOI: 10.1111/ced.13154
Abstract: Neurofibromatosis type 1 (NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene. We present the case of a Hungarian woman with the clinical phenotype of NF1 over… read more here.
Keywords: unilateral limb; type unilateral; neurofibromatosis type; overgrowth syndrome ... See more keywords