title: Ellis-van Creveld syndrome resulting from segmental uniparental disomy of chromosome 4.
authors.forename: S W
authors.initials: SW
authors.lastname: Tompson
authors.forename: V L
authors.initials: VL
authors.lastname: Ruiz-Perez
authors.forename: M J
authors.initials: MJ
authors.lastname: Wright
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
mesh_terms: D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D004613:Ellis-Van Creveld Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D016254:Mutagenesis, Insertional; D011110:Polymorphism, Genetic; D020080:Tandem Repeat Sequences