The Basal Cell Naevus Syndrome: Report of a Family with Anosmia and a Case of Hypogonadotrophic Hypopituitarism
Identifieur interne : 001591 ( Pmc/Curation ); précédent : 001590; suivant : 001592The Basal Cell Naevus Syndrome: Report of a Family with Anosmia and a Case of Hypogonadotrophic Hypopituitarism
Auteurs : D. C. Wallace ; K. J. Murphy ; L. Kelly ; W. H. WardSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 1973.
Abstract
A family with the naevoid basal cell carcinoma syndrome is described. Three affected members in one sibship suffered from anosmia. One member has shown a most severe constellation of defects including cataracts, hypertelorism, and anosmia, together with hypogonadism secondary to partial pituitary dysfunction. It is suggested that this latter also represents a previously unreported manifestation of the syndrome.
Url:
PubMed: 4697853
PubMed Central: 1012973
Links toward previous steps (curation, corpus...)
- to stream Pmc, to step Corpus: Pour aller vers cette notice dans l'étape Curation :001591
Links to Exploration step
PMC:1012973Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">The Basal Cell Naevus Syndrome: Report of a Family with Anosmia and a Case of Hypogonadotrophic Hypopituitarism</title><author><name sortKey="Wallace, D C" sort="Wallace, D C" uniqKey="Wallace D" first="D. C." last="Wallace">D. C. Wallace</name></author><author><name sortKey="Murphy, K J" sort="Murphy, K J" uniqKey="Murphy K" first="K. J." last="Murphy">K. J. Murphy</name></author><author><name sortKey="Kelly, L" sort="Kelly, L" uniqKey="Kelly L" first="L." last="Kelly">L. Kelly</name></author><author><name sortKey="Ward, W H" sort="Ward, W H" uniqKey="Ward W" first="W. H." last="Ward">W. H. Ward</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">4697853</idno><idno type="pmc">1012973</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1012973</idno><idno type="RBID">PMC:1012973</idno><date when="1973">1973</date><idno type="wicri:Area/Pmc/Corpus">001591</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001591</idno><idno type="wicri:Area/Pmc/Curation">001591</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001591</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">The Basal Cell Naevus Syndrome: Report of a Family with Anosmia and a Case of Hypogonadotrophic Hypopituitarism</title><author><name sortKey="Wallace, D C" sort="Wallace, D C" uniqKey="Wallace D" first="D. C." last="Wallace">D. C. Wallace</name></author><author><name sortKey="Murphy, K J" sort="Murphy, K J" uniqKey="Murphy K" first="K. J." last="Murphy">K. J. Murphy</name></author><author><name sortKey="Kelly, L" sort="Kelly, L" uniqKey="Kelly L" first="L." last="Kelly">L. Kelly</name></author><author><name sortKey="Ward, W H" sort="Ward, W H" uniqKey="Ward W" first="W. H." last="Ward">W. H. Ward</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="1973">1973</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A family with the naevoid basal cell carcinoma syndrome is described. Three affected members in one sibship suffered from anosmia. One member has shown a most severe constellation of defects including cataracts, hypertelorism, and anosmia, together with hypogonadism secondary to partial pituitary dysfunction. It is suggested that this latter also represents a previously unreported manifestation of the syndrome.</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>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn></journal-meta><article-meta><article-id pub-id-type="pmid">4697853</article-id><article-id pub-id-type="pmc">1012973</article-id><article-categories><subj-group subj-group-type="heading"><subject>Articles</subject></subj-group></article-categories><title-group><article-title>The Basal Cell Naevus Syndrome: Report of a Family with Anosmia and a Case of Hypogonadotrophic Hypopituitarism</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Wallace</surname><given-names>D. C.</given-names></name><xref ref-type="author-notes" rid="au1">*</xref></contrib><contrib contrib-type="author"><name><surname>Murphy</surname><given-names>K. J.</given-names></name><xref ref-type="author-notes" rid="au2">†</xref></contrib><contrib contrib-type="author"><name><surname>Kelly</surname><given-names>L.</given-names></name><xref ref-type="author-notes" rid="au2">†</xref></contrib><contrib contrib-type="author"><name><surname>Ward</surname><given-names>W. H.</given-names></name><xref ref-type="author-notes" rid="au1">*</xref></contrib></contrib-group><author-notes><fn id="au1"><label>*</label><p> From the Royal Newcastle Hospital, New South Wales, Australia.</p></fn><fn id="au2"><label>†</label><p> From the Princess Alexandra Hospital, Brisbane, Queensland, Australia.</p></fn></author-notes><pub-date pub-type="ppub"><month>03</month><year>1973</year></pub-date><volume>10</volume><issue>1</issue><fpage>30</fpage><lpage>33</lpage><abstract><p>A family with the naevoid basal cell carcinoma syndrome is described. Three affected members in one sibship suffered from anosmia. One member has shown a most severe constellation of defects including cataracts, hypertelorism, and anosmia, together with hypogonadism secondary to partial pituitary dysfunction. It is suggested that this latter also represents a previously unreported manifestation of the syndrome.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Santé/explor/EdenteV2/Data/Pmc/Curation
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001591 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd -nk 001591 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Santé
|area= EdenteV2
|flux= Pmc
|étape= Curation
|type= RBID
|clé= PMC:1012973
|texte= The Basal Cell Naevus Syndrome: Report of a Family with Anosmia and a Case of Hypogonadotrophic Hypopituitarism
}}
Pour générer des pages wiki
HfdIndexSelect -h $EXPLOR_AREA/Data/Pmc/Curation/RBID.i -Sk "pubmed:4697853" \
| HfdSelect -Kh $EXPLOR_AREA/Data/Pmc/Curation/biblio.hfd \
| NlmPubMed2Wicri -a EdenteV2
| This area was generated with Dilib version V0.6.32. |  |