| Literature DB >> 3712393 |
Abstract
Noonan's syndrome is a clinically recognisable short stature syndrome with autosomal dominant inheritance. The diagnosis can be difficult as the phenotypic expression is very variable. There has been an attempt to divide this syndrome into type I (in which the facial features, especially ptosis, antimongoloid eye slant, and hypertelorism are prominent) and type II (where cardiological abnormalities are more to the fore), but this has not yet been confirmed by other studies.Entities:
Mesh:
Year: 1986 PMID: 3712393 PMCID: PMC1049573 DOI: 10.1136/jmg.23.2.161
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318