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Gastrointestinal disorders in Curry–Jones syndrome: Clinical and molecular insights from an affected newborn
Curry–Jones syndrome (CJS) is a pattern of malformation that includes craniosynostosis, pre‐axial polysyndactyly, agenesis of the corpus callosum, cutaneous and gastrointestinal abnormalities. A recurrent, mosaic mutation of SMO (c.1234 C>T; p.Leu412Phe) causes CJS. This report describes the gast...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5933242/ https://www.ncbi.nlm.nih.gov/pubmed/28386950 http://dx.doi.org/10.1002/ajmg.a.38232 |