Genetic heterogeneity in Rieger eye malformation.
Open Access
- 1 April 1994
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 31 (4) , 340-341
- https://doi.org/10.1136/jmg.31.4.340
Abstract
A three generation family with Rieger eye malformation sequence is described. No other abnormalities were present apart from the eye malformation. Linkage to EGF and D4S193 localised in 4q25 was excluded and this indicates that Rieger eye malformation is genetically different from typical Rieger syndrome with teeth and umbilical anomalies.Keywords
This publication has 11 references indexed in Scilit:
- Genetic and physical maps of human chromosome 4 based on dinucleotide repeatsGenomics, 1992
- Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4Nature Genetics, 1992
- Strategies for characterizing highly polymorphic markers in human gene mapping.1992
- Evidence that Rieger syndrome maps to 4q25 or 4q27.Journal of Medical Genetics, 1992
- The Rieger Syndrome and a Chromosome 13 DeletionJournal of Pediatric Ophthalmology & Strabismus, 1987
- MULTILOCUS LINKAGE ANALYSIS IN HUMANS - DETECTION OF LINKAGE AND ESTIMATION OF RECOMBINATION1985
- A case of partial monosomy 21q22.2 associated with Rieger's syndrome.Journal of Medical Genetics, 1984
- Interstitial deletion 4q and Rieger syndromeClinical Genetics, 1981
- The Rieger syndromeAmerican Journal of Medical Genetics, 1978
- Pericentric inversion and partial monosomy 4q associated with congenital anomaliesHuman Genetics, 1977