Usher syndrome type 1 associated with primary ciliary aplasia

Archives of Ophthalmology

Volumn 121, Issue 3, 2003, Pages 407-408

  Tosi, Gian Marco ^b   De Santi, Maria Margherita ^b   Pradal, Ugo ^b   Braggion, Cesare ^b   Luzi, Pietro ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CELL ULTRASTRUCTURE; CHILD; CILIARY DYSKINESIA; DISEASE ASSOCIATION; EPITHELIUM CELL; HUMAN; MALE; MUCOCILIARY TRANSPORT; PRIORITY JOURNAL; USHER SYNDROME;

EID: 0037334976     PISSN: 00039950     EISSN: None     Source Type: Journal    
DOI: 10.1001/archopht.121.3.407     Document Type: Article

References (4)

1. Hunter DG, Fishman GA, Mehta RS, Kretzer FL. Abnormal sperm and photoreceptor axonemes in Usher's syndrome. Arch Ophthalmol. 1986;104:385-389.
2. Barrong SD, Chaitin MH, Fliesler SJ, Possin DE, Jacobson SG, Milam AH. Ultrastructure of connecting cilia in different forms of retinitis pigmentosa. Arch Ophthalmol. 1992;110:706-710.
3. Bonneau D, Raymond F, Kremer C, Klossek JM, Kaplan J, Patte F. Usher syndrome type I associated with bronchiectasis and immotile nasal cilia in two brothers. J Med Genet. 1993;30:253-254.
4. Hasson T, Heintzelman MB, Santos-Sacchi J, Corey DP, Mooseker MS. Expression in cochlea and retina of myosin VIIa, the gene product defective in Usher syndrome type IB. Proc Natl Acad Sci U S A. 1995;92:9815-9819.