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An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the...
Zapisane w:
| Wydane w: | Ann Pediatr Endocrinol Metab |
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| Główni autorzy: | , , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Korean Society of Pediatric Endocrinology
2017
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5642084/ https://ncbi.nlm.nih.gov/pubmed/29025208 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6065/apem.2017.22.3.203 |
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