COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.

Dupont, Céline

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome. [electronic resource] - American journal of medical genetics. Part A Oct 2013 - 2663-5 p. digital

Publication Type: Case Reports; Journal Article

1552-4833

10.1002/ajmg.a.36081 doi


Adult
Arthritis--diagnosis
Child
Chromosome Banding
Chromosomes, Human, Pair 12
Chromosomes, Human, Pair 15
Collagen Type II--genetics
Comparative Genomic Hybridization
Connective Tissue Diseases--diagnosis
Female
Hearing Loss, Sensorineural--diagnosis
Humans
In Situ Hybridization, Fluorescence
Infant, Newborn
Male
Pregnancy
Retinal Detachment--diagnosis
Translocation, Genetic