Ontology highlight
ABSTRACT:
SUBMITTER: Ferrante MI
PROVIDER: S-EPMC1274470 | biostudies-literature | 2001 Mar
REPOSITORIES: biostudies-literature
Ferrante M I MI Giorgio G G Feather S A SA Bulfone A A Wright V V Ghiani M M Selicorni A A Gammaro L L Scolari F F Woolf A S AS Sylvie O O Bernard L L Malcolm S S Winter R R Ballabio A A Franco B B
American journal of human genetics 20010213 3
Oral-facial-digital type 1 syndrome (OFD1 [MIM 311200]) is transmitted as an X-linked dominant condition with lethality in males and is characterized by malformations of the face, oral cavity, and digits, and by a highly variable expressivity even within the same family. Malformation of the brain and polycystic kidneys are commonly associated with this disorder. The locus for OFD1 was mapped by linkage analysis to a 12-Mb interval, flanked by markers DXS85 and DXS7105 in the Xp22 region. To iden ...[more]