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A mutation in FRIZZLED2 impairs Wnt signaling and causes autosomal dominant omodysplasia
Autosomal dominant omodysplasia is a rare skeletal dysplasia characterized by short humeri, radial head dislocation, short first metacarpals, facial dysmorphism and genitourinary anomalies. We performed next-generation whole-exome sequencing and comparative analysis of a proband with omodysplasia, h...
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| Veröffentlicht in: | Hum Mol Genet |
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| Hauptverfasser: | , , , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2015
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4834928/ https://ncbi.nlm.nih.gov/pubmed/25759469 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv088 |
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