Sensorineural hearing loss, striate palmoplantar hyperkeratosis, and knuckle pads in a patient with a novel connexin 26 (GJB2) mutation.

Journal of medical genetics

Volumn 42, Issue 1, 2005, Pages

  Leonard, N J ^a   Krol, A L ^a   Bleoo, S ^a   Somerville, M J ^a  

^a UNIVERSITY OF ALBERTA HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN; PRIMER DNA;

ARTHROPATHY; ARTICLE; CASE REPORT; CHILD; FEMALE; FINGER; GENE DOSAGE; GENETICS; HUMAN; KERATOSIS PALMOPLANTARIS; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS;

BASE SEQUENCE; CHILD; CONNEXINS; DNA PRIMERS; FEMALE; FINGERS; GENE DOSAGE; HEARING LOSS, SENSORINEURAL; HUMANS; JOINT DISEASES; KERATODERMA, PALMOPLANTAR; MUTATION, MISSENSE;

EID: 33644874120     PISSN: None     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2003.017376     Document Type: Article

References (0)