A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation
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چکیده
A 33-year-old woman visited Ajou University Hospital with a history of multiple café-au-lait spots and skin neurofibromas. She had a family history of NF1; her grandfather, mother, aunt, and younger sister had been diagnosed with NF1 (Fig. 1). Her growth and development were normal, and she had no history of surgery. However, physical examination revealed multiple café-au-lait spots, axillary freckling, and multiple skin neurofibromas. The patient did not have plexiform neurofibroma. Ophthalmological examination of the eyes showed bilateral A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation
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تاریخ انتشار 2014