The original patient with the Weissenbacher-Zweymu ¨ller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate gly
✦ LIBER ✦
The Weissenbacher-Zweymüller syndrome: Possible neonatal expression of the Stickler syndrome
✍ Scribed by Kelly, Thaddeus E. ;Wells, Hugh H. ;Tuck, Kenneth B.
- Publisher
- John Wiley and Sons
- Year
- 1982
- Tongue
- English
- Weight
- 420 KB
- Volume
- 11
- Category
- Article
- ISSN
- 0148-7299
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