The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness [3]

American Journal of Medical Genetics

Volumn 137 A, Issue 2, 2005, Pages 225-227

  Feldmann, Delphine ^a   Denoyelle, Françoise ^a   Blons, Hélène ^a   Lyonnet, Stanislas ^b   Loundon, Natalie ^a   Rouillon, Isabelle ^a   Hadj Rabia, Smail ^b   Petit, Christine ^a   Couderc, Rémy ^a   Garabédian, Eréa Noel ^a   Marlin, Sandrine ^a  

^a ARMAND TROUSSEAU HOSPITAL   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; GAP JUNCTION PROTEIN; GLUTAMINE;

ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE SEVERITY; FEMALE; GENE; GENE MUTATION; GJB2 GENE; HETEROZYGOTE; HUMAN; ICHTHYOSIS; KERATOSIS PALMOPLANTARIS; LETTER; MALE; MICROSATELLITE MARKER; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SYMPTOM;

ABNORMALITIES, MULTIPLE; AUDIOMETRY; CONNEXINS; FAMILY HEALTH; FEMALE; GENOTYPE; HEARING LOSS; HUMANS; KERATODERMA, PALMOPLANTAR; MALE; MUTATION, MISSENSE; PEDIGREE; SYNDROME;

EID: 24344472519     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30765     Document Type: Letter

References (12)

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