A second locus for Rieger syndrome maps to chromosome 13q14

Journal Article · Sun Sep 01 00:00:00 EDT 1996 · American Journal of Human Genetics

OSTI ID:478509

Phillips, J C; Del Bono, E A; Pralea, A M ^[1]

---

1. Tufts Univ., Boston, MA (United States); and others

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. 31 refs., 1 fig., 3 tabs.

• OSTI ID: 478509
• Journal Information: American Journal of Human Genetics, Vol. 59, Issue 3; Other Information: PBD: Sep 1996
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
HUMAN CHROMOSOME 13
GENETIC MAPPING
PATIENTS
HEREDITARY DISEASES
PHENOTYPE
CONGENITAL MALFORMATIONS
GENES
GENE REGULATION
GENE MUTATIONS
HUMAN CHROMOSOMES
GENETICS
STATISTICS
DOMINANT MUTATIONS
BIOLOGICAL MARKERS