Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene

American Journal of Ophthalmology

Volumn 125, Issue 1, 1998, Pages 98-100

  Alward, Wallace L M ^a   Semina, Elena V ^b   Kalenak, Jeffrey W ^b   Héon, Elise ^b   Sheth, Bhavna P ^b   Stone, Edwin M ^b   Murray, Jeffrey C ^b  

^a UNIVERSITY OF IOWA   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HOMEOBOX; HUMAN; HUMAN CELL; HYPOPLASIA; IRIS; PRIORITY JOURNAL; RIEGER SYNDROME; SEQUENCE ANALYSIS;

EID: 0031984554     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(99)80242-6     Document Type: Article

References (5)

1. 1. Martin JP, Zorab EC. Familial glaucoma in nine generations of a South Hampshire family. Br J Ophthalmol 1974;58: 536-542.
2. 2. Héon E, Sheth BP, Kalenak JW, et al. Linkage of autosomal dominant iris hypoplasia to the Rieger syndrome locus (4q25). Hum Mol Genet 1995;4:1435-1439.
3. 3. Murray JC, Bennett SR, Kwitek AE, et al. Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet 1992;2:46-49.
4. 4. Semina EV, Reiter R, Leysens NJ, et al. Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet 1996;14:392-399.
5. 5. Lichter PR. Genetic clues to glaucoma's secrets. Am J Ophthalmol 1994;117:706-727.