Clinicopathologic reports, case reports, and small case series: usher syndrome type 1 associated with primary ciliary aplasia.
Tosi
Gian Marco
GM
de Santi
Maria Margherita
MM
Pradal
Ugo
U
Braggion
Cesare
C
Luzi
Pietro
P
D002648:Child; D002923:Cilia / Q000648:ultrastructure; D002925:Ciliary Motility Disorders / Q000150:complications* / Q000473:pathology; D003638:Deafness / Q000209:etiology*; D004596:Electroretinography; D005451:Fluorescein Angiography; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000209:etiology*; D006801:Humans; D008297:Male; D009297:Nasal Mucosa / Q000166:cytology; D020545:Respiratory Mucosa / Q000166:cytology; D012162:Retinal Degeneration / Q000175:diagnosis / Q000209:etiology*; D014792:Visual Acuity