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

Klinische Padiatrie - 1 Feb 2024

Oestreich Marc-Alexander, Keller Fabian, Bovermann Xenia, Braun Dominique, Schiller Rike, Raio Luigi, Zweier Christiane, Casaulta Carmen, Usemann Jakob, Kidszun André, Popa-Todirenchi Mircea-Horia

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PMID: 38224688
DOI: 10.1055/a-2235-6201

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