title: Familial combination of brachydactyly, type E and atrial septal defect, type II.
abstract: Nine members of a three generation family were affected with the combination of brachydactyly, type E and heart defect, mainly atrial septal defect, type II. A similar malformation pattern of autosomal dominant origin has not previously been delineated.
authors.affiliation: Department of Human Genetics and Teratology, National Institute of Hygiene, Budapest, Hungary.
authors.forename: A
authors.initials: A
authors.lastname: Czeizel
authors.forename: P
authors.initials: P
authors.lastname: Göblyös
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000235:genetics*; D006801:Humans; D010375:Pedigree; D011859:Radiography; D013577:Syndrome