Jonard, Laurence

Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: a very mild phenotype. [electronic resource] - European journal of medical genetics Jan 2012 - 56-8 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1878-0849

10.1016/j.ejmg.2011.06.009 doi


Adolescent
Female
Genetic Testing
Hearing Loss, Sensorineural--genetics
Histiocytosis, Sinus--genetics
Homozygote
Humans
Mutation, Missense
Nucleoside Transport Proteins--genetics
Phenotype