Article
Study of the PVRL1 gene in Italian nonsyndromic cleft lip patients with or without cleft palate.
Annals of human genetics - 1 May 2006
Scapoli L, Palmieri A, Martinelli M, Vaccari C, Marchesini J, Pezzetti F, Baciliero U, Padula E, Carinci P, Carinci F
Abstract excerpt
Nonsyndromic cleft lip with or without cleft palate (CL/P) is a complex genetic trait and little is known about its aetiology. Recent investigations on rare clefting syndromes provided interesting clues about genes involved in face development. The PVRL1 gene encodes nectin1, a cell-to-cell adhesion molecule. Mutations in its sequence have been shown to cause the rare autosomal recessive syndrome CL/P-ectodermal...
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