title: COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.
authors.affiliation: AP-HP, Department of Genetic-Cytogenetic Unit, Robert Debre Hospital, Paris, France.
authors.forename: Céline
authors.initials: C
authors.lastname: Dupont
authors.forename: Clarisse
authors.initials: C
authors.lastname: Baumann
authors.forename: Nathalie
authors.initials: N
authors.lastname: Le Du
authors.forename: Elise
authors.initials: E
authors.lastname: Schaefer
authors.forename: Fabien
authors.initials: F
authors.lastname: Guimiot
authors.forename: Lucile
authors.initials: L
authors.lastname: Boutaud
authors.forename: Yline
authors.initials: Y
authors.lastname: Capri
authors.forename: Emmanuel
authors.initials: E
authors.lastname: Spaggiari
authors.forename: Azzedine
authors.initials: A
authors.lastname: Aboura
authors.forename: Brigitte
authors.initials: B
authors.lastname: Benzacken
authors.forename: Anne-Claude
authors.initials: AC
authors.lastname: Tabet
mesh_terms: D000328:Adult; D001168:Arthritis / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D002871:Chromosome Banding; D002881:Chromosomes, Human, Pair 12; D002884:Chromosomes, Human, Pair 15; D024043:Collagen Type II / Q000235:genetics*; D055028:Comparative Genomic Hybridization; D003240:Connective Tissue Diseases / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012163:Retinal Detachment / Q000175:diagnosis / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II