A Second Locus for Rieger Syndrome Maps to Chromosome 13q14

Overview

Journal Am J Hum Genet

Publisher Cell Press

Specialty Genetics

Date 1996 Sep 1

PMID 8751862

Citations 41

Authors

J C Phillips

E A Del Bono

J L Haines

A M Pralea

J S Cohen

L J Greff

J L Wiggs

Affiliations

Soon will be listed here.

Abstract

Rieger syndrome is a genetically and phenotypically heterogeneous disorder typically characterized by malformations of the eyes, teeth, and umbilicus. The syndrome is inherited as an autosomal dominant trait and exhibits significant variable expressivity. One locus associated with this disorder has been mapped to 4q25. Using a large four-generation pedigree, we have identified a second locus for Rieger syndrome located on chromosome 13q14.

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