Otologic manifestations in a family with craniometaphyseal dysplasia
β Scribed by E.B. Young; J.L. Goins; C.D. Constantine; D.J. Kirse
- Book ID
- 113844452
- Publisher
- Elsevier Science
- Year
- 2011
- Tongue
- English
- Weight
- 412 KB
- Volume
- 6
- Category
- Article
- ISSN
- 1871-4048
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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
Craniometaphyseal dysplasia (CMD) was found in 6 generations of a large German kindred; 24 affected individuals were identified. The clinical diagnosis was confirmed by further examinations in 15 individuals, including 2 exhumed skeletons. Five deceased individuals were considered to be undoubtedly