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

ABSTRACT 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 anh...

Ausführliche Beschreibung