Axenfeld anomaly and retinal changes in Ramon syndrome: Follow-up of two sibs

American Journal of Medical Genetics

Volumn 104, Issue 2, 2001, Pages 131-134

  Parkin, Ben ^a   Law, Caroline ^b  

^a SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^b PRINCESS ANNE HOSPITAL   (United Kingdom)

Author keywords

Anterior chamber anomaly; Axenfeld anomaly; Optic disc anomaly; Ramon syndrome; Retinopathy

Indexed keywords

ADULT; ANTERIOR EYE CHAMBER DISEASE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; FEMALE; FOLLOW UP; HUMAN; INTELLIGENCE QUOTIENT; INTRAOCULAR PRESSURE ABNORMALITY; MALE; OPTIC DISK ANOMALY; PALLOR; PRIORITY JOURNAL; RETINOPATHY; SIBLING;

ADULT; EYE ABNORMALITIES; FAMILY HEALTH; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; RETINA; SYNDROME;

EID: 0035935631     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1590     Document Type: Article

References (9)

1. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene
2. Embryotoxon corneae posterius
3. Ocular abnormalities in the Alagille syndrome
4. Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis
5. Retinal changes and tumorigenesis in Ramon syndrome: Follow-up of a Brazilian family
6. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25
7. Ramon syndrome with diabetes mellitus and vascular skin lesions in two sibs
8. Gingival fibromatosis combined with cherubism
9. A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD