A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

A novel genetic variant in DNAI2 detected by custom gene panel in a newborn with Primary Ciliary Dyskinesia: case report

Abstract Background Primary ciliary dyskinesia (PCD) is a highly heterogeneous genetic disorder caused by defects in motile cilia. The hallmark features of PCD are the chronic infections of the respiratory tract, moreover, clinical manifestations include also laterality defects and risk of male infe...

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Main Authors: Maria Santa Rocca (Author), Gioia Piatti (Author), Angela Michelucci (Author), Raffaella Guazzo (Author), Veronica Bertini (Author), Cinzia Vinanzi (Author), Maria Adelaide Caligo (Author), Angelo Valetto (Author), Carlo Foresta (Author)
Format: Book
Published: BMC, 2020-11-01T00:00:00Z.
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