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Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

Identifieur interne : 006F22 ( Main/Curation ); précédent : 006F21; suivant : 006F23

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

Auteurs : Lize V. Ferreira [Brésil] ; Silvia C. A. L. Souza [Brésil] ; Luciana R. Montenegro [Brésil] ; Alexsandra C. Malaquias [Brésil] ; Ivo J. P. Arnhold [Brésil] ; Berenice B. Mendonca [Brésil] ; Alexander A. L. Jorge [Brésil]

Source :

Clinical Endocrinology [ 0300-0664 ] ; 2008-09.

RBID : ISTEX:3806DDA45B15FB76C519D7D35106E53866CA4588

Abstract

Background Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS.

Url:

https://api.istex.fr/document/3806DDA45B15FB76C519D7D35106E53866CA4588/fulltext/pdf

DOI: 10.1111/j.1365-2265.2008.03234.x

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Le document en format XML

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<author><name sortKey="Malaquias, Alexsandra C" sort="Malaquias, Alexsandra C" uniqKey="Malaquias A" first="Alexsandra C." last="Malaquias">Alexsandra C. Malaquias</name>
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<front><div type="abstract">Background  Mutations in the PTPN11 gene are the main cause of Noonan syndrome (NS). The presence of some NS features is a frequent finding in children with idiopathic short stature (ISS). These children can represent the milder end of the NS clinical spectrum and PTPN11 is a good candidate for involvement in the pathogenesis of ISS.</div>
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Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients

Source :

Abstract

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