Article
NPHP3 mutations are associated with neonatal onset multiorgan polycystic disease in two siblings.
Journal of perinatology : official journal of the California Perinatal Association - 1 May 2014
Leeman K T, Dobson L, Towne M, Dukhovny D, Joshi M, Stoler J, Agrawal P B
Abstract excerpt
Two siblings with a severe multiorgan polycystic disease presenting in the neonatal period were identified. Their genetic testing identified compound heterozygous NPHP3 gene mutations, parents being heterozygous carriers. The mutations included a splice-site (c.958-2A>G) and a missense mutation (c.2342G>A; p.G781D), both being extremely rare. NPHP3 encodes for nephrocystin 3 present on the cilia-centrosome...
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