A second locus for Rieger syndrome maps to chromosome 13q14.
JC Phillips, EA Del Bono, JL Haines… - American journal of …, 1996 - ncbi.nlm.nih.gov
JC Phillips, EA Del Bono, JL Haines, AM Pralea, JS Cohen, LJ Greff, JL Wiggs
American journal of human genetics, 1996•ncbi.nlm.nih.govRieger 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.
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.
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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