The term, "chondrodysplasia punctata" (CDP) denotes a pattern of abnormal punctate calcification of dystrophic epiphyseal cartilage and certain other cartilaginous structures, such as the larynx. CDP occurs in a variety of genetic disorders associated with skeletal dwarfism and can also be caused by
Erratum: Kelley RI, Wilcox WG, Smith M, Kratz LE, Moser A, Rimoin DS. 1999. Abnormal sterol metabolism in patients with Conradi-H�nermann-Happle syndrome and sporadic lethal chondrodysplasia punctata. Am J Med Genet 83:213-219
✍ Scribed by Muroya, Koji; Kosho, Tomoki; Ogata, Tsutomu; Matsuo, Mari
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 411 B
- Volume
- 84
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990604)84:4<387::aid-ajmg19>3.0.co;2-e
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✦ Synopsis
In the second paragraph of the "Discussion" section, an incorrect chromosome segment is given for the locus of the human sterol-⌬ 8 -isomerase gene. The correct site is 11p11.22-23.
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