- Tytuł:
- SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.
- Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2009 Oct; Vol. 17 (10), pp. 1216-21. Date of Electronic Publication: 2009 Apr 08.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Mutation *
Giant Cells/*cytology
Noonan Syndrome/*genetics
Protein Tyrosine Phosphatase, Non-Receptor Type 11/*genetics
SOS1 Protein/*genetics
Adolescent ; Alleles ; Cherubism/genetics ; Child ; Humans ; Male ; Phenotype ; Pigmentation ; Signal Transduction ; Syndrome
Czasopismo naukowe