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DC Field | Value | Language |
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dc.contributor.author | Digilio, Maria Cristina | |
dc.contributor.author | Marino, Bonnie | |
dc.date.accessioned | 2015-07-02T07:12:34Z | |
dc.date.available | 2015-07-02T07:12:34Z | |
dc.date.issued | 2001 | |
dc.identifier.citation | Images in Paediatric Cardiology. 2000, Vol.3(2), p. 19-30 | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/3793 | |
dc.description.abstract | Noonan syndrome is a common genetic disorder characterized by facial anomalies, congenital heart defect, short stature, webbed neck, chest deformities and undescended testes. The phenotypic expression of Noonan syndrome is extremely variable, with some affected subjects showing only minor features of the syndrome. Cardiac malformations are also heterogeneous. Pulmonary stenosis, with or without dysplastic pulmonary valve and hypertrophic cardiomyopathy, are the “classic” cardiac defects reported in Noonan syndrome. However, atrial septal defect, atrioventricular septal defect, left-sided obstructive lesions, tetralogy of Fallot and patent ductus arteriosus have also been described. Autosomal dominant inheritance has been documented in some families, although many cases appear to be sporadic. The diagnosis of Noonan syndrome is at present purely clinical, because a “diagnostic” test is not available. Indeed, although a gene for Noonan syndrome has been recently mapped by linkage analysis to chromosome 12q, the gene or genes of the syndrome have not been yet cloned. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | Images in Paediatric Cardiology | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Noonan syndrome | en_GB |
dc.subject | Congenital heart disease | en_GB |
dc.subject | Medical genetics | en_GB |
dc.title | Clinical manifestations of Noonan syndrome | en_GB |
dc.type | article | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.description.reviewed | peer-reviewed | en_GB |
Appears in Collections: | IPC, Volume 3, Issue 2 IPC, Volume 3, Issue 2 |
Files in This Item:
File | Description | Size | Format | |
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Clinical manifestations of Noonan syndrome.pdf Restricted Access | 474.89 kB | Adobe PDF | View/Open Request a copy |
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