A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness

American Journal of Pathology

Volumn 173, Issue 4, 2008, Pages 1113-1119

  De Zwart Storm, Eugene A ^a,b,c   Van Geel, Michel ^a,b   Van Neer, Pierre A F A ^d   Steijlen, Peter M ^a,b   Martin, Patricia E ^b,c   Van Steensel, Maurice A M ^a,b  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b GLASGOW CALEDONIAN UNIVERSITY   (United Kingdom)

^c MAASTRICHT UNIVERSITY   (Netherlands)

^d LAURENTIUS HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 26; EPIDERMAL GROWTH FACTOR RECEPTOR;

ADULT; ARTICLE; CASE REPORT; FEMALE; FLUORESCENCE; GAP JUNCTION; HEARING IMPAIRMENT; HUMAN; HUMAN CELL; MISSENSE MUTATION; PALMOPLANTAR KERATODERMA; PRIORITY JOURNAL; PROTEIN TRANSPORT;

EID: 53149107103     PISSN: 00029440     EISSN: None     Source Type: Journal    
DOI: 10.2353/ajpath.2008.080049     Document Type: Article

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