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Otologic manifestations in a family with craniometaphyseal dysplasia

Book ID: 116565866
Publisher: Elsevier Science
Year: 2011
Tongue: English
Weight: 56 KB
Volume: 75
Category: Article
ISSN: 0165-5876
DOI: 10.1016/j.ijporl.2010.11.033

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## Abstract Craniometaphyseal dysplasia is caused by mutations in __ANKH__ (ankylosis, progressive homolog [mouse]) in the majority of cases, and all of the reported mutations are single amino acid changes. Genomic DNA from an affected patient, his biological parents, and a sibling was amplified an