A Mild Case of Jeune Syndrome Associated with a Recurrent Missense Variant in DYNC2H1: Confirmation of a Genotype-Phenotype Correlation.
Marc-Alexander OestreichFabian KellerXenia BovermannDominique BraunRike SchillerLuigi RaioChristiane ZweierCarmen CasaultaJakob UsemannAndré KidszunMircea-Horia Popa-TodirenchiPublished in: Klinische Padiatrie (2024)