Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.

@article{Moalem2013BroadeningTC,
  title={Broadening the ciliopathy spectrum: motile cilia dyskinesia, and nephronophthisis associated with a previously unreported homozygous mutation in the INVS/NPHP2 gene.},
  author={Sharon Moalem and Sarah Toews Keating and Patrick V. R. Shannon and Megan A Thompson and Kathryn E Millar and Keith Nykamp and Adam Forster and Abdul Noor and David C Chitayat},
  journal={American journal of medical genetics. Part A},
  year={2013},
  volume={161A 7},
  pages={
          1792-6
        }
}
Nephronophthisis associated ciliopathies (NPHP-AC) are a group of phenotypically related conditions that include Joubert syndrome, Meckel syndrome, nephronophthisis (NPHP), and Senior-Loken syndrome. We report on a male fetus with prenatal ultrasound findings at 24 weeks of gestation of anhydramnios, large and echogenic kidneys and situs inversus totalis. Histopathology revealed nephronophthisis and tracheal mucosa electron microscopy revealed ciliary dysgenesis. DNA analysis of the NPHP genes… CONTINUE READING
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