Yazar "Coene, Karlien L. M." için listeleme
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CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
Gorden, Nicholas T.; Arts, Heleen H.; Parisi, Melissa A.; Coene, Karlien L. M.; Letteboer, Stef J. F.; van Beersum, Sylvia E. C.; Katsanis, Nicholas (Cell Press, 2008)Joubert syndrome and related disorders (JSRD) are primarily autosomal-recessive conditions characterized by hypotonia, ataxia, abnormal eye movements, and intellectual disability with a distinctive mid-hindbrain malformation. ... -
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes
Putoux, Audrey; Thomas, Sophie; Coene, Karlien L. M.; Davis, Erica E.; Alanay, Yasemin; Ogur, Gonul; Colin, Estelle (Nature Publishing Group, 2011)KIF7, the human ortholog of Drosophila Costal2, is a key component of the Hedgehog signaling pathway. Here we report mutations in KIF7 in individuals with hydrolethalus and acrocallosal syndromes, two multiple malformation ...
