Progressive hearing loss associated with a unique cervical node due to a homozygous SLC29A3 mutation: A very mild phenotype

European Journal of Medical Genetics

Volumn 55, Issue 1, 2012, Pages 56-58

  Jonard, Laurence ^a,b,c   Couloigner, Vincent ^d   Pierrot, Sébastien ^d   Louha, Malek ^a,b,c   Gherbi, Souad ^a,b,c   Denoyelle, Françoise ^a,b,c   Marlin, Sandrine ^a,b,c  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b SORBONNE UNIVERSITÉ   (France)

^c Institut Pasteur   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

H syndrome; Hearing loss; Histiocytosis; Rosai Dorfman; SLC29A3

Indexed keywords

ARGININE; CARRIER PROTEIN; GENOMIC DNA; GLUTAMINE; SLC29A3 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; CASE REPORT; CELL PROLIFERATION; CERVICAL LYMPHADENOPATHY; DISEASE ASSOCIATION; DNA EXTRACTION; DNA SEQUENCE; EXON; FEMALE; GENETIC ANALYSIS; HISTIOCYTE; HUMAN; MISSENSE MUTATION; PERCEPTION DEAFNESS; PHENOTYPE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; ROSAI DORFMAN DISEASE; SINUS HISTIOCYTOSIS;

ADOLESCENT; FEMALE; GENETIC TESTING; HEARING LOSS, SENSORINEURAL; HISTIOCYTOSIS, SINUS; HOMOZYGOTE; HUMANS; MUTATION, MISSENSE; NUCLEOSIDE TRANSPORT PROTEINS; PHENOTYPE;

EID: 84855446988     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2011.06.009     Document Type: Article

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