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.
Thauvin-Robinet
Christel
C
Centre de Génétique, Hôpital d'Enfants, CHU, Dijon, France. christel.thauvin@chu-dijon.fr
Callier
Patrick
P
Franco
Brunella
B
Zuffardi
Orsetta
O
Payet
Muriel
M
Aral
Bernard
B
Gigot
Nadège
N
Donzel
Anne
A
Mosca-Boidron
Anne-Laure
AL
Masurel-Paulet
Alice
A
Huet
Frédéric
F
Teyssier
Jean-Raymond
JR
Mugneret
Francine
F
Faivre
Laurence
L
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*
C115130:OFD1 protein, human; D011506:Proteins