GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form

American Journal of Medical Genetics

Volumn 133 A, Issue 2, 2005, Pages 128-131

  Janecke, Andreas R ^a,g   Hennies, Hans Christian ^b   Günther, Barbara ^a   Gansl, Gabriele ^c   Smolle, Josef ^d   Messmer, Elisabeth M ^e   Utermann, Gerd ^a   Rittinger, Olaf ^f  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^b MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^c GENERAL HOSPITAL KLAGENFURT   (Austria)

^d MEDICAL UNIVERSITY OF GRAZ   (Austria)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f University Hospital Salzburg   (Austria)

^g UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

Connexin 26; Connexin 30; Connexin 31; Erythrokeratoderma; Hearing loss

Indexed keywords

CONNEXIN 26; GAP JUNCTION PROTEIN;

ADULT; ARTICLE; ASSOCIATION OF CONGENITAL DEFECTS; AUSTRIA; CASE REPORT; CAUCASIAN; CHILD; CLINICAL FEATURE; DISEASE COURSE; FATALITY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HEARING IMPAIRMENT; HUMAN; HUMAN TISSUE; ICHTHYOSIS; JAPAN; KERATITIS; MALE; MITOCHONDRIAL GENETICS; MITOCHONDRION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SYNDROME; SYNDROME KID;

ABNORMALITIES, MULTIPLE; ADULT; CHILD; CONNEXINS; DEAFNESS; DNA; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; HUMANS; ICHTHYOSIS; INFANT; KERATITIS; MUTATION; SYNDROME;

EID: 14044263546     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30515     Document Type: Article

References (24)

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