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Volumn 149, Issue 11, 2013, Pages 1350-1351

Erratum: Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia (JAMA Dermatology (2013) (DOI: 10.1001/jamadermatol.2013.4766));Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; CONNEXIN 26; CONNEXIN 30; GENOMIC DNA; ISOLEUCINE; VALINE;

EID: 84888584238     PISSN: 21686068     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamadermatol.2013.7404     Document Type: Erratum
Times cited : (18)

References (6)
  • 1
    • 0342572603 scopus 로고    scopus 로고
    • Mutations in GJB6 cause hidrotic ectodermal dysplasia
    • Lamartine J, Munhoz Essenfelder G, Kibar Z, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000;26(2):142-144.
    • (2000) Nat Genet , vol.26 , Issue.2 , pp. 142-144
    • Lamartine, J.1    Munhoz Essenfelder, G.2    Kibar, Z.3
  • 6
    • 2442446948 scopus 로고    scopus 로고
    • Genetic heterogeneity of KID syndrome: Identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
    • DOI 10.1111/j.0022-202X.2004.22518.x
    • Jan AY, Amin S, Ratajczak P, Richard G, Sybert VP. Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6)mutation in a patient with KID syndrome and congenital atrichia. J Invest Dermatol. 2004;122(5):1108-1113. (Pubitemid 38651083)
    • (2004) Journal of Investigative Dermatology , vol.122 , Issue.5 , pp. 1108-1113
    • Jan, A.Y.1    Amin, S.2    Ratajczak, P.3    Richard, G.4    Sybert, V.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.