A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2.
| Autor: | Lehmann, Katarina1 katarina.lehmann@charite.de, Seemann, Petra2, Boergermann, Jan3, Morin, Gilles4, Reif, Silke5, Knaus, Petra3, Mundlos, Stefan1,2 |
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| Zdroj: | European Journal of Human Genetics. Dec2006, Vol. 14 Issue 12, p1248-1254. 7p. 3 Diagrams. |
| Databáze: | Academic Search Ultimate |
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