Chinese patient with neurofibromatosis-Noonan syndrome caused by novel heterozygous NF1 exons 1-58 deletion: a case report
Abstract Background Neurofibromatosis-Noonan syndrome (NFNS) is a rare autosomal dominant hereditary disease. We present a case of NFNS due to the heterozygous deletion of exons 1-58 of the NF1 gene on chromosome 17 in a 15-month-old boy. Case presentation A 15-month-old boy was admitted for motor a...
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| Main Authors: | , , , , |
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| Format: | Book |
| Published: |
BMC,
2020-05-01T00:00:00Z.
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