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...

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Detalles Bibliográficos
Autores principales: Wigby, Kristen, Twigg, Stephen R. F., Broderick, Ryan, Davenport, Katherine P., Wilkie, Andrew O. M., Bickler, Stephen W., Jones, Marilyn C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Original Articles
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

Internet

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

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