Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1.

Thauvin-Robinet, C; El Ghouzzi, V; Chemaitilly, W; Dagoneau, N; Boute, O; Viot, G; Mégarbané, A; Sefiani, A; Munnich, A; Le Merrer, M; Cormier-Daire, V

Thauvin-Robinet, C; El Ghouzzi, V; Chemaitilly, W; Dagoneau, N; Boute, O; Viot, G; Mégarbané, A; Sefiani, A; Munnich, A; Le Merrer, M; Cormier-Daire, V.

Affiliation

Thauvin-Robinet C; Département de Génétique et INSERM U393, Hôpital Necker Enfants Malades, Paris, France.

J Med Genet ; 39(10): 714-7, 2002 Oct.

Article in En | MEDLINE | ID: mdl-12362026

Subject(s)

Abnormalities, Multiple/genetics; Chromosomes, Human, Pair 18/genetics; Dwarfism/genetics; Homozygote; Intellectual Disability/genetics; Physical Chromosome Mapping/methods; Bone Diseases, Developmental/diagnostic imaging; Bone Diseases, Developmental/genetics; Child; Child, Preschool; Consanguinity; Female; Genetic Markers/genetics; Haplotypes/genetics; Humans; Limb Deformities, Congenital/genetics; Loss of Heterozygosity/genetics; Male; Pedigree; Pelvis/pathology; Radiography; Scoliosis/genetics; Syndrome

Fulltext

XML

PubMed Links

Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Abnormalities, Multiple / Chromosomes, Human, Pair 18 / Physical Chromosome Mapping / Dwarfism / Homozygote / Intellectual Disability Type of study: Diagnostic_studies / Prognostic_studies Limits: Child / Child, preschool / Female / Humans / Male Language: En Journal: J Med Genet Year: 2002 Type: Article Affiliation country: France

Fulltext

XML

PubMed Links

Search on Google