TY  - GEN
AU  - Dupont,Céline
AU  - Baumann,Clarisse
AU  - Le Du,Nathalie
AU  - Schaefer,Elise
AU  - Guimiot,Fabien
AU  - Boutaud,Lucile
AU  - Capri,Yline
AU  - Spaggiari,Emmanuel
AU  - Aboura,Azzedine
AU  - Benzacken,Brigitte
AU  - Tabet,Anne-Claude
TI  - COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome
SN  - 1552-4833
PY  - 2014///0515
KW  - Adult
KW  - Arthritis
KW  - diagnosis
KW  - Child
KW  - Chromosome Banding
KW  - Chromosomes, Human, Pair 12
KW  - Chromosomes, Human, Pair 15
KW  - Collagen Type II
KW  - genetics
KW  - Comparative Genomic Hybridization
KW  - Connective Tissue Diseases
KW  - Female
KW  - Hearing Loss, Sensorineural
KW  - Humans
KW  - In Situ Hybridization, Fluorescence
KW  - Infant, Newborn
KW  - Male
KW  - Pregnancy
KW  - Retinal Detachment
KW  - Translocation, Genetic
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1002/ajmg.a.36081
ER  -