Autosomal recessive IFT57 hypomorphic mutation cause...

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Clinical Genetics 2016 / 04

Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia

Thevenon, J., Duplomb, L., Phadke, S., Eguether, T., Saunier, A., Avila, M., Carmignac, V., Bruel, A.-L., St-Onge, J., Duffourd, Y., Pazour, G.J., Franco, B., Attie-Bitach, T., Masurel-Paulet, A., Riv
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Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.12785
Date:
April, 2016
File:
PDF, 1.75 MB
english, 2016
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