A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation

Affiliations

• ¹ Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland.
• ² Division of Paediatric Respiratory Medicine and Allergology, Department of Paediatrics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland.
• ³ Department of Human Genetics, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland.
• ⁴ Department of Diagnostic, Interventional and Paediatric Radiology, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland.
• ⁵ Department of Obstetrics and Gynecology, University of Bern, Inselspital Universitätsspital Bern, Bern, Switzerland.
• ⁶ Division of Respiratory Medicine, UKBB, Basel, Switzerland.
• ⁷ Division of Respiratory Medicine, Universitäts-Kinderspital Zürich, Zürich, Switzerland.