Further delineation of the hypotrichosis-deafness syndrome

European Journal of Dermatology

Volumn 15, Issue 6, 2005, Pages 437-438

  Van Steensel, Maurice A M ^a   Van Geel, M ^a   Steulen, P M ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Connexin; Erythrokeratoderma; Gap junction; Hypotrichosis deafness syndrome

Indexed keywords

CONNEXIN 26; CONNEXIN 31; GAP JUNCTION BETA 4 PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CLINICAL FEATURE; ECZEMA; FEMALE; GAP JUNCTION; GENE; GENOTYPE; HUMAN; HYPOTRICHOSIS; MISSENSE MUTATION; MOUTH MUCOSA; MUCOSA INFLAMMATION; NAIL DYSCHROMIA; NAIL DYSTROPHY; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; SIGN LANGUAGE; SKIN DEFECT; VAGINA MUCOSA;

CHILD, PRESCHOOL; FEMALE; HAIR DISEASES; HEARING LOSS, SENSORINEURAL; HUMANS; KERATOSIS; MUTATION; NAILS, MALFORMED; PHENOTYPE; SYNDROME;

EID: 28244474837     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Van Steensel MA, Steijlen PM, Bladergroen RS, et al. A Pheno-type Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation. J Invest Dermatol 2004; 123: 291-3.
2. Brown CW, Levy ML, Flaitz CM, et al. A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness. J Invest Dermatol 2003; 121: 1221-3.
3. Kelsell DP, Wilgoss AL, Richard G, et al. Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur J Hum Genet 2000; 8: 469-72.
4. Richard G, Brown N, Ishida-Yamamoto A, et al. Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2. J Invest Dermatol 2004; 123: 856-63.
5. Van Geel M, Van Steensel MA, Steijlen PM. Connexin 30.3 (GJB4) is not required for normal skin function in humans. Br J Dermatol 2002; 147: 1 275-7.
6. van Steensel MA. Gap junction diseases of the skin. Am J Med Genet 2004; 131C: 12-9.