Choroideremia with polydactyly mimicking the Laurence-Moon-Bardet-Biedl syndrome

Retina

Volumn 23, Issue 3, 2003, Pages 413-415

  Schwartz, Stephen G ^a   Noble, Kenneth G ^b   Carr, Ronald E ^b  

^a VIRGINIA COMMONWEALTH UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; BARDET BIEDL SYNDROME; CASE REPORT; CHOROIDEREMIA; CLINICAL FEATURE; DISEASE ASSOCIATION; DISEASE COURSE; HUMAN; HYPOGONADISM; MALE; MENTAL DEFICIENCY; OBESITY; PARAPLEGIA; POLYDACTYLY; RETINA DEGENERATION; SHORT STATURE; SYNDACTYLY; X CHROMOSOME RECESSIVE DISORDER;

EID: 0038756717     PISSN: 0275004X     EISSN: None     Source Type: Journal    
DOI: 10.1097/00006982-200306000-00025     Document Type: Article

References (5)

1. Schachat AP, Maumenee IH. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 1982;100:285-288.
2. Carr RE, Noble KG. Disorders of the fundus. 2. Choroideremia. Ophthalmology 1980;87:169-171.
3. Beaufrere L, Tuffery S, Hamel C, et al. The protein truncation test (PTT) as a method of detection for choroideremia mutations. Exp Eye Res 1997;65:849-854.
4. MacDonald IM, Mah DY, Ho YK, et al. A practical diagnostic test for choroideremia. Ophthalmology 1998;105: 1637-1640.
5. Woolf CM, Myrianthopoulos NC. Polydactyly in American Negroes and whites. Am J Hum Genet 1973;25:397-404.