Concepedia

Publication | Open Access

<i>C14ORF179</i> encoding IFT43 is mutated in Sensenbrenner syndrome

DOIFull Paper Access

144

Citations

31

References

2011

Year

Heleen H. Arts, Ernie M.H.F. Bongers, Dorus A. Mans, Sylvia E. C. van Beersum, M. M. Oud, Emine Bolat, Liesbeth Spruijt, Elisabeth A. M. Cornelissen, Janneke Schuurs-Hoeijmakers, Nicole de Leeuw,
Journal of Medical Genetics

Abstract

The results indicate that Sensenbrenner syndrome is caused by disrupted IFT-A-mediated retrograde ciliary transport.

References

YearCitations

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