From clinical suspect to molecular confirmation of noonan syndrome; contribution of “best practice” genetic counseling and new technical possibilities
Noonan syndrome (NS) is an autosomal dominant disorder, characterized by variable expressivity of clinical features such as: postnatal growth reduction, congenital heart disease, characteristic facial dysmorphisms and development delay. In ~75% of all NS cases, germline mutations involving...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Serbian Genetics Society
2015-01-01
|
| Series: | Genetika |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0534-0012/2015/0534-00121503877B.pdf |