Caricamento...
Molecular Confirmation of HRAS p.G12S in Siblings with Costello Syndrome
Costello syndrome was first reported based on its characteristic phenotype. Its presentation affects multiple organ systems, including severe failure-to-thrive with macrocephaly, characteristic facial features, hypertrophic cardiomyopathy, papillomata, malignant tumors, and cognitive impairment. Het...
Salvato in:
| Autori principali: | , , , , , , |
|---|---|
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2011
|
| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3158836/ https://ncbi.nlm.nih.gov/pubmed/21834037 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34150 |
| Tags: |
Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !
|