title: Familial congenital diaphragmatic defect and associated midline anomalies: further evidence for an X-linked midline gene?
abstract: We report on familial occurrence of congenital diaphragmatic defect and associated midline anomalies, namely cleft palate and omphalocele in brothers. This family further supports the existence of an X-linked gene involved in the organization of the embryonal midline. This particular mutant gene might be active in the schisis-morphogenesis phenomena occurring at the midline.
authors.affiliation: Genetics Unit, Soroka University Hospital, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.
authors.forename: R
authors.initials: R
authors.lastname: Carmi
authors.forename: I
authors.initials: I
authors.lastname: Meizner
authors.forename: M
authors.initials: M
authors.lastname: Katz
mesh_terms: D002972:Cleft Palate / Q000235:genetics*; D003964:Diaphragm / Q000002:abnormalities*; D005260:Female; D008040:Genetic Linkage; D006554:Hernia, Umbilical / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D014960:X Chromosome