Noonan syndrome
Identifieur interne : 003347 ( Main/Exploration ); précédent : 003346; suivant : 003348Noonan syndrome
Auteurs : Amy E. Roberts ; Judith E. Allanson ; Marco Tartaglia ; Bruce D. GelbSource :
- Lancet [ 0140-6736 ] ; 2013.
Abstract
Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.
Url:
DOI: 10.1016/S0140-6736(12)61023-X
PubMed: 23312968
PubMed Central: 4267483
Affiliations:
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: 003669
- to stream Pmc, to step Curation: 003668
- to stream Pmc, to step Checkpoint: 002111
- to stream Ncbi, to step Merge: 005510
- to stream Ncbi, to step Curation: 005510
- to stream Ncbi, to step Checkpoint: 005510
- to stream Main, to step Merge: 003353
- to stream Main, to step Curation: 003347
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Noonan syndrome</title><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E" last="Roberts">Amy E. Roberts</name></author><author><name sortKey="Allanson, Judith E" sort="Allanson, Judith E" uniqKey="Allanson J" first="Judith E" last="Allanson">Judith E. Allanson</name></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D" last="Gelb">Bruce D. Gelb</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">23312968</idno><idno type="pmc">4267483</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4267483</idno><idno type="RBID">PMC:4267483</idno><idno type="doi">10.1016/S0140-6736(12)61023-X</idno><date when="2013">2013</date><idno type="wicri:Area/Pmc/Corpus">003669</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003669</idno><idno type="wicri:Area/Pmc/Curation">003668</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">003668</idno><idno type="wicri:Area/Pmc/Checkpoint">002111</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002111</idno><idno type="wicri:Area/Ncbi/Merge">005510</idno><idno type="wicri:Area/Ncbi/Curation">005510</idno><idno type="wicri:Area/Ncbi/Checkpoint">005510</idno><idno type="wicri:Area/Main/Merge">003353</idno><idno type="wicri:Area/Main/Curation">003347</idno><idno type="wicri:Area/Main/Exploration">003347</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Noonan syndrome</title><author><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E" last="Roberts">Amy E. Roberts</name></author><author><name sortKey="Allanson, Judith E" sort="Allanson, Judith E" uniqKey="Allanson J" first="Judith E" last="Allanson">Judith E. Allanson</name></author><author><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name></author><author><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D" last="Gelb">Bruce D. Gelb</name></author></analytic><series><title level="j">Lancet</title><idno type="ISSN">0140-6736</idno><idno type="eISSN">1474-547X</idno><imprint><date when="2013">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P1">Noonan syndrome is a genetic multisystem disorder characterised by distinctive facial features, developmental delay, learning difficulties, short stature, congenital heart disease, renal anomalies, lymphatic malformations, and bleeding difficulties. Mutations that cause Noonan syndrome alter genes encoding proteins with roles in the RAS–MAPK pathway, leading to pathway dysregulation. Management guidelines have been developed. Several clinically relevant genotype–phenotype correlations aid risk assessment and patient management. Increased understanding of the pathophysiology of the disease could help development of pharmacogenetic treatments.</p></div></front></TEI><affiliations><list></list><tree><noCountry><name sortKey="Allanson, Judith E" sort="Allanson, Judith E" uniqKey="Allanson J" first="Judith E" last="Allanson">Judith E. Allanson</name><name sortKey="Gelb, Bruce D" sort="Gelb, Bruce D" uniqKey="Gelb B" first="Bruce D" last="Gelb">Bruce D. Gelb</name><name sortKey="Roberts, Amy E" sort="Roberts, Amy E" uniqKey="Roberts A" first="Amy E" last="Roberts">Amy E. Roberts</name><name sortKey="Tartaglia, Marco" sort="Tartaglia, Marco" uniqKey="Tartaglia M" first="Marco" last="Tartaglia">Marco Tartaglia</name></noCountry></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/LymphedemaV1/Data/Main/Exploration
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 003347 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd -nk 003347 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= LymphedemaV1
|flux= Main
|étape= Exploration
|type= RBID
|clé= PMC:4267483
|texte= Noonan syndrome
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Main/Exploration/RBID.i -Sk "pubmed:23312968" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Main/Exploration/biblio.hfd \
| NlmPubMed2Wicri -a LymphedemaV1
| This area was generated with Dilib version V0.6.31. |  |