Article
DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.
The clinical respiratory journal - 1 Mar 2018
Emiralioglu Nagehan, Wallmeier Julia, Olbrich Heike, Omran Heymut, Ozcelik Ugur
Abstract excerpt
Asphyxiating thoracic dystrophy, also known as Jeune syndrome, is included in a group of syndromic skeletal ciliopathies associated with mutations in genes encoding proteins involved in the formation or function of motile cilia. Herein, we report a 6-mo-old male admitted to hospital with recurrent lung infections, thoracic dystrophy, and respiratory distress that was diagnosed as Jeune syndrome; DYNC2H1 mutation...
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