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“Opitz C syndrome and pseudohypoaldosteronism” is caused by a chromosome 4q deletion

✍ Scribed by Thomy de Ravel; Irina Balikova; Jozef Van Driessche; Joris Vermeesch; Jean-Pierre Fryns

Book ID: 101452061
Publisher: John Wiley and Sons
Year: 2009
Tongue: English
Weight: 82 KB
Volume: 149A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.32817

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## Abstract The IVIC syndrome described in 1980 in a large Venezuelan family, is an autosomal dominant condition characterized by upper limbs anomalies (radial ray defects, carpal bones fusion), extraocular motor disturbances, congenital bilateral non‐progressive mixed hearing loss; other less cons