Sharon Moalem, Sarah Keating, Patrick Shannon, Megan Thompson, Kathryn Millar, Keith Nykamp, Adam Forster, Abdul Noor and David Chitayat Broadening the ciliopathy spectrum: Motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene American Journal of Medical Genetics Part A 161
Article first published online: 24 MAY 2013 | DOI: 10.1002/ajmg.a.36036
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