title: Search for genomic imbalances in a cohort of 20 patients with oral-facial-digital syndromes negative for mutations and large rearrangements in the OFD1 gene.
authors.affiliation: Centre de Génétique, Hôpital d'Enfants, CHU, Dijon, France. christel.thauvin@chu-dijon.fr
authors.forename: Christel
authors.initials: C
authors.lastname: Thauvin-Robinet
authors.forename: Patrick
authors.initials: P
authors.lastname: Callier
authors.forename: Brunella
authors.initials: B
authors.lastname: Franco
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Muriel
authors.initials: M
authors.lastname: Payet
authors.forename: Bernard
authors.initials: B
authors.lastname: Aral
authors.forename: Nadège
authors.initials: N
authors.lastname: Gigot
authors.forename: Anne
authors.initials: A
authors.lastname: Donzel
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Mosca-Boidron
authors.forename: Alice
authors.initials: A
authors.lastname: Masurel-Paulet
authors.forename: Frédéric
authors.initials: F
authors.lastname: Huet
authors.forename: Jean-Raymond
authors.initials: JR
authors.lastname: Teyssier
authors.forename: Francine
authors.initials: F
authors.lastname: Mugneret
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
mesh_terms: D002869:Chromosome Aberrations; D015331:Cohort Studies; D055028:Comparative Genomic Hybridization; D005260:Female; D042822:Genomic Instability; D006801:Humans; D009154:Mutation / Q000235:genetics; D009958:Orofaciodigital Syndromes / Q000235:genetics* / Q000473:pathology; D011506:Proteins / Q000235:genetics*
chemical_list: C115130:OFD1 protein, human; D011506:Proteins