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Genomic deletions of OFD1 account for 23% of oral-facial-digital type 1 syndrome after negative DNA sequencing.
Thauvin-Robinet, Christel; Franco, Brunella; Saugier-Veber, Pascale; Aral, Bernard; Gigot, Nadège; Donzel, Anne; Van Maldergem, Lionel; Bieth, Eric; Layet, Valérie; Mathieu, Michèle; Teebi, Ahmad; Lespinasse, James; Callier, Patrick; Mugneret, Francine; Masurel-Paulet, Alice; Gautier, Elodie; Huet, Frédéric; Teyssier, Jean-Raymond; Tosi, Mario; Frébourg, Thierry; Faivre, Laurence.
Affiliation
  • Thauvin-Robinet C; Centre de Génétique, Hôpital d'Enfants, CHU Dijon, France. christel.thauvin@chu-dijon.fr
Hum Mutat ; 30(2): E320-9, 2009 Feb.
Article in En | MEDLINE | ID: mdl-19023858
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Orofaciodigital Syndromes / Proteins / Genome, Human / Sequence Deletion / Sequence Analysis, DNA Limits: Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2009 Type: Article Affiliation country: France
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Orofaciodigital Syndromes / Proteins / Genome, Human / Sequence Deletion / Sequence Analysis, DNA Limits: Female / Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2009 Type: Article Affiliation country: France