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A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome

โœ Scribed by Hayat Dagher; Mark Buzza; Deb Colville; Colin Jones; Harley Powell; Rob Fassett; Diane Wilson; John Agar; Judy Savige


Book ID
114463430
Publisher
Elsevier Science
Year
2001
Tongue
English
Weight
280 KB
Volume
38
Category
Article
ISSN
0272-6386

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## Abstract We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BMRS) phenotype. Using current nosology, five sporadic patients have Ohdo syndrome, associated with congenital hypothyroidism in two of them (thus also compatible with a diagnosis of Youngโ€