Article
Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification.
Journal of medical genetics - 1 Oct 2011
Cervantes-Barragán David E, Villarroel Camilo E, Medrano-Hernández Alma, Durán-McKinster Carola, Bosch-Canto Vanessa, Del-Castillo Victoria, Nazarenko Irina, Yang Amy, Desnick Robert J
Abstract excerpt
BACKGROUND: The focal facial dermal dysplasias (FFDDs) are a group of inherited disorders of facial development, characterised by bitemporal or preauricular scar-like defects, the former resembling 'forceps marks'. Recently, different homozygous TWIST2 nonsense mutations were reported in unrelated Setleis syndrome (FFDD Type III) patients from consanguineous families, consistent with autosomal recessive...
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