A 2ND LOCUS FOR RIEGER SYNDROME MAPS TO CHROMOSOME 13Q14

Authors
PHILLIPS JC DELBONO EA HAINES JL PRALEA AM COHEN JS GREFF LJ WIGGS JL
Citation
Jc. Phillips et al., A 2ND LOCUS FOR RIEGER SYNDROME MAPS TO CHROMOSOME 13Q14, American journal of human genetics, 59(3), 1996, pp. 613-619
Citations number
31
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of human genetics → ACNP
ISSN journal
00029297
Volume
59
Issue
3
Year of publication
1996
Pages
613 - 619
Database
ISI
SICI code
0002-9297(1996)59:3<613:A2LFRS>2.0.ZU;2-5
Abstract
Rieger syndrome is a genetically and phenotypically heterogeneous diso rder typically characterized by malformations of the eyes, teeth, and umbilicus. The syndrome is inherited as an autosomal dominant trait an d exhibits significant variable expressivity. One locus associated wit h this disorder has been mapped to 4q25. Using a large four-generation pedigree, we have identified a second locus for Rieger syndrome locat ed on chromosome 13q14.