Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients
Identifieur interne : 006F22 ( Main/Exploration ); précédent : 006F21; suivant : 006F23Analysis 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.
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:
DOI: 10.1111/j.1365-2265.2008.03234.x
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Istex, to step Corpus: 001994
- to stream Istex, to step Curation: 001994
- to stream Istex, to step Checkpoint: 001181
- to stream Main, to step Merge: 007031
- to stream Main, to step Curation: 006F22
Le document en format XML
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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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<name sortKey="Arnhold, Ivo J P" sort="Arnhold, Ivo J P" uniqKey="Arnhold I" first="Ivo J. P." last="Arnhold">Ivo J. P. Arnhold</name>
<name sortKey="Jorge, Alexander A L" sort="Jorge, Alexander A L" uniqKey="Jorge A" first="Alexander A. L." last="Jorge">Alexander A. L. Jorge</name>
<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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<name sortKey="Souza, Silvia C A L" sort="Souza, Silvia C A L" uniqKey="Souza S" first="Silvia C. A. L." last="Souza">Silvia C. A. L. Souza</name>
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