Mutation of GJB2 in a Chinese patient with keratitis-ichthyosis-deafness syndrome and brain malformation

Clinical and Experimental Dermatology

Volumn 34, Issue 3, 2009, Pages 309-313

  Zhang, X B ^a   Wei, S C ^a   Li, C X ^b   Xu, X ^a   He, Y Q ^a   Luo, Q ^a   Li, J ^a   Wang, Y F ^a  

^a GUANGZHOU INSTITUTE OF DERMATOLOGY   (China)

^b Dongguan Hospital of Chronic Disease   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ENDONUCLEASE;

ADOLESCENT; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CHINESE; CONGENITAL MALFORMATION; DNA EXTRACTION; DNA SEQUENCE; FEMALE; GENE; GENE AMPLIFICATION; GENE MUTATION; GJB2 GENE; HETEROZYGOSITY; HUMAN; MISSENSE MUTATION; PRIORITY JOURNAL; RARE DISEASE; SYNDROME KID;

ADOLESCENT; CONNEXINS; DANDY-WALKER SYNDROME; DNA MUTATIONAL ANALYSIS; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; ICHTHYOSIFORM ERYTHRODERMA, CONGENITAL; KERATITIS; MAGNETIC RESONANCE IMAGING; MUTATION, MISSENSE; PEDIGREE; SYNDROME;

EID: 62449224792     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2008.02934.x     Document Type: Article

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