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Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease

✍ Scribed by Guido Currarino

Publisher
Springer-Verlag
Year
2008
Tongue
English
Weight
225 KB
Volume
39
Category
Article
ISSN
0301-0449

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The Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disorder. It comprises a coarse face, short neck, hirsutism, joint laxity, and normal intelligence. Bone dysplasias, include acro-osteolysis, bathrocephaly, and vertebral anomalies. In 1988, Exner [1988: Eur J Pediatr 147:544-546] coined t

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## Summary The aim of this study was to identify possible disease‐associated mutations in the canine homologue of the polycystic kidney disease gene 1 (__PKD1__) in Bull Terriers with autosomal dominant polycystic kidney disease. Messenger RNA was obtained from the blood or renal tissue of five Bul