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A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy
Bondeson, M.-L., Ericson, K., Gudmundsson, S., Ameur, A., Pontén, F., Wesström, J., Frykholm, C., Wilbe, M.Language:
english
Journal:
Clinical Genetics
DOI:
10.1111/cge.13012
Date:
April, 2017
File:
PDF, 1.27 MB
english, 2017