Analysis of two candidate genes for Basan syndrome

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 diseas...

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Veröffentlicht in:	American journal of medical genetics. Part A 2014-05, Vol.164A (5), p.1188-1191
Hauptverfasser:	Marks, Katherine C., Banks III, Wesley R., Cunningham, David, Witman, Patricia M., Herman, Gail E.
Format:	Artikel
Sprache:	eng
Schlagworte:	absent fingerprints adermatoglyphia Basan syndrome Child, Preschool DNA Helicases - genetics Ectodermal Dysplasia - diagnosis Ectodermal Dysplasia - genetics Female Genetic Association Studies Genotype Humans Keratin-14 - genetics Male Mutation Nails, Malformed - diagnosis Nails, Malformed - genetics Pedigree Phenotype RNA Splice Sites SMARCAD1
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