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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
BMC
2020-05-01
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| Σειρά: | BMC Pediatrics |
| Θέματα: | |
| Διαθέσιμο Online: | http://link.springer.com/article/10.1186/s12887-020-02102-z |
| Ετικέτες: |
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