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

Klin Padiatr

Division of Neonatology, Department of Paediatrics, Inselspital Universitätsspital Bern, University of Bern, Bern, Switzerland.

Published: February 2024

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http://dx.doi.org/10.1055/a-2235-6201	DOI Listing

Publication Analysis

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recurrent missense

missense variant

variant dync2h1

dync2h1 confirmation

confirmation genotype-phenotype

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