Article
Analysis of two candidate genes for Basan syndrome.
American journal of medical genetics. Part A - 1 May 2014
Marks Katherine C, Banks Wesley R, Cunningham David, Witman Patricia M, Herman Gail E
Abstract excerpt
Basan syndrome is an extremely rare ectodermal dysplasia with autosomal dominant inheritance and variable expressivity. The etiology of Basan syndrome remains unknown. To identify the Basan syndrome gene, we sequenced keratin 14 (KRT14) and SMARCAD1 in a previously unreported kindred with the disease. Sequencing of the coding regions and splice junctions of KRT14 and SMARCAD1 was performed using PCR-amplified...
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