1 Ocak 2017 Dergi makalesi Açık Erişim

Lehalle, Daphne; Altunoglu, Umut; Bruel, Ange-Line; Arnaud, Eric; Blanchet, Patricia; Choi, Jong-Woo; Desir, Julie; Kilic, Esra; Lederer, Damien; Pinson, Lucile; Thauvin-Robinet, Christel; Singer, Amihood; Thevenon, Julien; Callier, Patrick; Kayserili, Hulya; Faivre, Laurence

MARC21 XML

<?xml version='1.0' encoding='UTF-8'?>
<record xmlns="http://www.loc.gov/MARC21/slim">
  <leader>00000nam##2200000uu#4500</leader>
  <datafield tag="909" ind1="C" ind2="4">
    <subfield code="n">12</subfield>
    <subfield code="c">3136-3142</subfield>
    <subfield code="v">173</subfield>
    <subfield code="p">AMERICAN JOURNAL OF MEDICAL GENETICS PART A</subfield>
  </datafield>
  <controlfield tag="005">20210315223511.0</controlfield>
  <datafield tag="909" ind1="C" ind2="O">
    <subfield code="o">oai:zenodo.org:49865</subfield>
    <subfield code="p">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="100" ind1=" " ind2=" ">
    <subfield code="a">Lehalle, Daphne</subfield>
  </datafield>
  <datafield tag="520" ind1=" " ind2=" ">
    <subfield code="a">Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin. Facial features were remarkable by nasal deformity with creased ridge and depressed or absent tip, widely spaced eyes, almond-shaped palpebral fissures, and downturned corners of the mouth. All had apparently normal psychomotor development. In addition, upper limb anomalies, frontonasal encephalocele, corpus callosum agenesis, choanal atresia, and congenital heart defect were observed. We identified five reports in the literature of patients presenting with the same phenotype. Exome sequencing was performed on DNA extracted from blood of two individuals, no candidate gene was identified. In conclusion, we report six novel simplex individuals presenting with a specific frontonasal dysplasia entity associating recognizable facial features, limb and visceral malformations, and apparently normal development. The identification of discordant monozygotic twins supports the hypothesis of a mosaic disorder. Although previous patients have been reported, this is the first series, allowing delineation of a clinical subtype of frontonasal dysplasia, paving the way toward the identification of its molecular etiology.</subfield>
  </datafield>
  <datafield tag="542" ind1=" " ind2=" ">
    <subfield code="l">open</subfield>
  </datafield>
  <datafield tag="650" ind1="1" ind2="7">
    <subfield code="2">opendefinition.org</subfield>
    <subfield code="a">cc-by</subfield>
  </datafield>
  <datafield tag="540" ind1=" " ind2=" ">
    <subfield code="u">http://www.opendefinition.org/licenses/cc-by</subfield>
    <subfield code="a">Creative Commons Attribution</subfield>
  </datafield>
  <controlfield tag="001">49865</controlfield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">publication</subfield>
    <subfield code="b">article</subfield>
  </datafield>
  <datafield tag="245" ind1=" " ind2=" ">
    <subfield code="a">Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients</subfield>
  </datafield>
  <datafield tag="260" ind1=" " ind2=" ">
    <subfield code="c">2017-01-01</subfield>
  </datafield>
  <datafield tag="980" ind1=" " ind2=" ">
    <subfield code="a">user-tubitak-destekli-proje-yayinlari</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Istanbul Univ, Dept Med Genet, Istanbul Fac Med, Istanbul, Turkey</subfield>
    <subfield code="a">Altunoglu, Umut</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Univ Bourgogne Franche Comte, Equipe GAD, INSERM, LNC UMR 1231,Fac Med, Dijon, France</subfield>
    <subfield code="a">Bruel, Ange-Line</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Hop Necker Enfants Malad, Serv Neurochirurg, Paris, France</subfield>
    <subfield code="a">Arnaud, Eric</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">CHU Montpellier, Genet Dept Rare Dis &amp; Personalised Med, Clin Div, Montpellier, France</subfield>
    <subfield code="a">Blanchet, Patricia</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Univ Ulsan, Dept Plast &amp; Reconstruct Surg, Coll Med, Seoul Asan Med Ctr, Seoul, South Korea</subfield>
    <subfield code="a">Choi, Jong-Woo</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Inst Pathol &amp; Genet, Ctr Human Genet, Gosselies, Belgium</subfield>
    <subfield code="a">Desir, Julie</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Pediat Hematol Oncol Res &amp; Training Hosp, Pediat Genet, Ankara, Turkey</subfield>
    <subfield code="a">Kilic, Esra</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Inst Pathol &amp; Genet, Ctr Human Genet, Gosselies, Belgium</subfield>
    <subfield code="a">Lederer, Damien</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">CHU Montpellier, Genet Dept Rare Dis &amp; Personalised Med, Clin Div, Montpellier, France</subfield>
    <subfield code="a">Pinson, Lucile</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Thauvin-Robinet, Christel</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Barzilai Govt Hosp, Pediat &amp; Med Genet, Ashqelon, Israel</subfield>
    <subfield code="a">Singer, Amihood</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Thevenon, Julien</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="u">Univ Bourgogne Franche Comte, Equipe GAD, INSERM, LNC UMR 1231,Fac Med, Dijon, France</subfield>
    <subfield code="a">Callier, Patrick</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Kayserili, Hulya</subfield>
  </datafield>
  <datafield tag="700" ind1=" " ind2=" ">
    <subfield code="a">Faivre, Laurence</subfield>
  </datafield>
  <datafield tag="856" ind1="4" ind2=" ">
    <subfield code="u">https://aperta.ulakbim.gov.trrecord/49865/files/bib-c4e0fb2f-b570-4483-a848-a9d7b1cd788f.txt</subfield>
    <subfield code="s">425</subfield>
    <subfield code="z">md5:8eb7e47f47d3cccac231ae996eeb3bfd</subfield>
  </datafield>
  <datafield tag="024" ind1=" " ind2=" ">
    <subfield code="a">10.1002/ajmg.a.38490</subfield>
    <subfield code="2">doi</subfield>
  </datafield>
</record>