Á lódáil...
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...
Na minha lista:
| Main Authors: | , , , , |
|---|---|
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
BMC
2020-05-01
|
| Sraith: | BMC Pediatrics |
| Ábhair: | |
| Rochtain Ar Líne: | http://link.springer.com/article/10.1186/s12887-020-02102-z |
| Clibeanna: |
Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!
|