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    Results: 5

    1.

    The role of connexins in ear and skin physiology - functional insights from disease-associated mutations.

    Xu J, Nicholson BJ.

    Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13. Review.

    PMID:
    22796187
    [PubMed - indexed for MEDLINE]
    2.

    A family of Bart-Pumphrey syndrome.

    Gönül M, Gül Ü, Hizli P, Hizli Ö.

    Indian J Dermatol Venereol Leprol. 2012 Mar-Apr;78(2):178-81. doi: 10.4103/0378-6323.93636.

    PMID:
    22421650
    [PubMed - indexed for MEDLINE]
    Free Article
    3.

    Connexin-26 mutations in deafness and skin disease.

    Lee JR, White TW.

    Expert Rev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Review.

    PMID:
    19939300
    [PubMed - indexed for MEDLINE]
    4.

    G59S mutation in the GJB2 (connexin 26) gene in a patient with Bart-Pumphrey syndrome.

    Alexandrino F, Sartorato EL, Marques-de-Faria AP, Steiner CE.

    Am J Med Genet A. 2005 Jul 30;136(3):282-4. No abstract available.

    PMID:
    15952212
    [PubMed - indexed for MEDLINE]
    5.

    Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

    Richard G, Brown N, Ishida-Yamamoto A, Krol A.

    J Invest Dermatol. 2004 Nov;123(5):856-63.

    PMID:
    15482471
    [PubMed - indexed for MEDLINE]
    Free Article

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