Identification of Somatic and Germline Mosaicism for a Keratin 5 Mutation in Epidermolysis Bullosa Simplex in a Family Initially Regarded as a Sporadic Case

    June 2004 in “ Clinical Genetics
    M Nagao‐Watanabe, Toko Fukao, E.C. Matsui, Hiroki Kaneko, Rie Inoue, Norio Kawamoto, Kazuo Kasahara, Miki Nagai, Y. Ichiki, Yasuo Kitajima, Norihiro Kondo
    Studysummary This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.
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