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A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese patient with Lymphedema-Distichiasis Syndrome Volume 23, numéro 3, May-June 2013

Auteurs
Department of Dermatology The Jikei University School of Medicine 3-25-8 Nishishimbashi, Minato-ku, Tokyo 105-8461 JAPAN

ejd.2013.2022 Auteur(s) : Munenari Itoh seafowl@jikei.ac.jp, Hidemi Nakagawa Department of Dermatology The Jikei University School of Medicine 3-25-8 Nishishimbashi, Minato-ku, Tokyo 105-8461 JAPAN Lymphedema-distichiasis syndrome (LDS, OMIM 153400) is a rare autosomal dominant disorder characterized by early or late-onset congenital lymphedema and distichiasis, defined as the presence of aberrant eyelashes arising from the meibomian glands on the inner aspects of the inferior and superior eyelids. [...]