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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Autosomal dominant isolated ('uncomplicated') microcephaly.</title><author><name sortKey="Merlob, P" sort="Merlob, P" uniqKey="Merlob P" first="P" last="Merlob">P. Merlob</name></author><author><name sortKey="Steier, D" sort="Steier, D" uniqKey="Steier D" first="D" last="Steier">D. Steier</name></author><author><name sortKey="Reisner, S H" sort="Reisner, S H" uniqKey="Reisner S" first="S H" last="Reisner">S H Reisner</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">3236353</idno><idno type="pmc">1051578</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051578</idno><idno type="RBID">PMC:1051578</idno><date when="1988">1988</date><idno type="wicri:Area/Pmc/Corpus">001873</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001873</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Autosomal dominant isolated ('uncomplicated') microcephaly.</title><author><name sortKey="Merlob, P" sort="Merlob, P" uniqKey="Merlob P" first="P" last="Merlob">P. Merlob</name></author><author><name sortKey="Steier, D" sort="Steier, D" uniqKey="Steier D" first="D" last="Steier">D. Steier</name></author><author><name sortKey="Reisner, S H" sort="Reisner, S H" uniqKey="Reisner S" first="S H" last="Reisner">S H Reisner</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="1988">1988</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped generation'. There is considerable variation in the phenotypic expression of autosomal dominant microcephaly. This isolated (uncomplicated) type of microcephaly should be distinguished from other well defined, dominantly inherited forms of microcephaly.</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">3236353</article-id><article-id pub-id-type="pmc">1051578</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Autosomal dominant isolated ('uncomplicated') microcephaly.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Merlob</surname><given-names>P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Steier</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Reisner</surname><given-names>S H</given-names></name></contrib></contrib-group><aff>Neonatology Department, Beilinson Medical Centre, Petah Tiqva, Israel.</aff><pub-date pub-type="ppub"><month>11</month><year>1988</year></pub-date><volume>25</volume><issue>11</issue><fpage>750</fpage><lpage>753</lpage><abstract><p>A large family (13 affected members in three generations) is reported in which isolated microcephaly occurred without any other dysmorphic or neurological abnormalities. The family pedigree confirms the autosomal dominant mode of inheritance with incomplete penetrance, including one example of male to male transmission and the occurrence of a non-manifesting heterozygote resulting in a 'skipped generation'. There is considerable variation in the phenotypic expression of autosomal dominant microcephaly. This isolated (uncomplicated) type of microcephaly should be distinguished from other well defined, dominantly inherited forms of microcephaly.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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