title: Is there an autosomal recessive form of the split hand and split foot malformation?
abstract: A family is described in which four subjects in two sibships had typical split hand/foot malformation. The possibility of the existence of a rare autosomal recessive form of the malformation is discussed, as well as a two locus model. In the two locus model the dominant mutation leading to the split hand/foot malformation is controlled by a gene at another locus. A dominant mutation at the controlling locus leads to non-penetrance of the split hand/foot mutation.
authors.affiliation: Department of Human Genetics, Hadassah Medical Centre, Hebrew University, Jerusalem, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Zlotogora
authors.forename: N
authors.initials: N
authors.lastname: Nubani
mesh_terms: D005260:Female; D005532:Foot Deformities, Congenital / Q000235:genetics*; D005808:Genes, Recessive; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree