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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Noonan Syndrome</title><author><name sortKey="Bhambhani, Vikas" sort="Bhambhani, Vikas" uniqKey="Bhambhani V" first="Vikas" last="Bhambhani">Vikas Bhambhani</name></author><author><name sortKey="Muenke, Maximilian" sort="Muenke, Maximilian" uniqKey="Muenke M" first="Maximilian" last="Muenke">Maximilian Muenke</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">24444506</idno><idno type="pmc">4099190</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099190</idno><idno type="RBID">PMC:4099190</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">003632</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">003632</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Noonan Syndrome</title><author><name sortKey="Bhambhani, Vikas" sort="Bhambhani, Vikas" uniqKey="Bhambhani V" first="Vikas" last="Bhambhani">Vikas Bhambhani</name></author><author><name sortKey="Muenke, Maximilian" sort="Muenke, Maximilian" uniqKey="Muenke M" first="Maximilian" last="Muenke">Maximilian Muenke</name></author></analytic><series><title level="j">American family physician</title><idno type="ISSN">0002-838X</idno><idno type="eISSN">1532-0650</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p id="P4">Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">1272646</journal-id><journal-id journal-id-type="pubmed-jr-id">397</journal-id><journal-id journal-id-type="nlm-ta">Am Fam Physician</journal-id><journal-id journal-id-type="iso-abbrev">Am Fam Physician</journal-id><journal-title-group><journal-title>American family physician</journal-title></journal-title-group><issn pub-type="ppub">0002-838X</issn><issn pub-type="epub">1532-0650</issn></journal-meta><article-meta><article-id pub-id-type="pmid">24444506</article-id><article-id pub-id-type="pmc">4099190</article-id><article-id pub-id-type="manuscript">NIHMS611115</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Noonan Syndrome</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>BHAMBHANI</surname><given-names>VIKAS</given-names></name><degrees>MD</degrees></contrib><contrib contrib-type="author"><name><surname>MUENKE</surname><given-names>MAXIMILIAN</given-names></name><degrees>MD</degrees></contrib><aff id="A1">National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland</aff></contrib-group><author-notes><fn id="FN3"><p id="P1"><bold>The Authors</bold></p><p id="P2">VIKAS BHAMBHANI, MD, is a clinical genetic fellow at the National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.</p><p id="P3">MAXIMILIAN MUENKE, MD, chief of the Medical Genetics Branch at the National Human Genome Research Institute, and director of the Medical Genetics and Genomic Medicine residency and fellowship training programs at the National Institutes of Health.</p></fn><corresp id="CR1">Address correspondence to Maximilian Muenke, MD, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 35 Convent Dr., MSC 3717, Bldg. 35, Room 1B-203, Bethesda, MD 20892-3717 (<email>mamuenke@mail.nih.gov</email>). Reprints are not available from the authors.</corresp></author-notes><pub-date pub-type="nihms-submitted"><day>4</day><month>7</month><year>2014</year></pub-date><pub-date pub-type="ppub"><day>1</day><month>1</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>15</day><month>7</month><year>2014</year></pub-date><volume>89</volume><issue>1</issue><fpage>37</fpage><lpage>43</lpage><permissions><copyright-statement>Copyright © 2014 American Academy of Family Physicians</copyright-statement><copyright-year>2014</copyright-year></permissions><abstract><p id="P4">Noonan syndrome is a common genetic disorder that causes multiple congenital abnormalities and a large number of potential health conditions. Most affected individuals have characteristic facial features that evolve with age; a broad, webbed neck; increased bleeding tendency; and a high incidence of congenital heart disease, failure to thrive, short stature, feeding difficulties, sternal deformity, renal malformation, pubertal delay, cryptorchidism, developmental or behavioral problems, vision problems, hearing loss, and lymphedema. Familial recurrence is consistent with an autosomal dominant mode of inheritance, but most cases are due to de novo mutations. Diagnosis can be made on the basis of clinical features, but may be missed in mildly affected patients. Molecular genetic testing can confirm diagnosis in 70% of cases and has important implications for genetic counseling and management. Most patients with Noonan syndrome are intellectually normal as adults, but some may require multidisciplinary evaluation and regular follow-up care. Age-based Noonan syndrome–specific growth charts and treatment guidelines are available.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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