A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

Journal of Medical Genetics

Volumn 37, Issue 1, 2000, Pages 50-51

  Heathcote, Kirsten ^a   Syrris, Petros ^a   Carter, Nicholas D ^a   Patton, Michael A ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

Connexin 26; Palmoplantar hyperkeratosis; Sensorineural hearing loss

Indexed keywords

CONNEXIN 26;

AMINO ACID SUBSTITUTION; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; HUMAN; KERATOSIS PALMOPLANTARIS; MALE; MISSENSE MUTATION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; SHORT SURVEY;

EID: 0034099846     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.37.1.50     Document Type: Short Survey

References (7)

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