A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome.

Terminal keratinocyte differentiation involves coordinated expression of several functionally interdependent genes, many of which have been mapped to the epidermal differentiation complex (EDC) on chromosome 1q21. We have identified linkage of Vohwinkel's syndrome in an extended pedigree to mar...

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Bibliographic Details
Main Authors: Maestrini, E, Monaco, A, McGrath, J, Ishida-Yamamoto, A, Camisa, C, Hovnanian, A, Weeks, D, Lathrop, M, Uitto, J, Christiano, A
Format: Journal article
Language:English
Published: 1996