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Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.
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Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.
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Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.
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Matthieu Moreau, Yoann Saillour, Vicente Elorriaga, Amaia OCHANDORENA SAA , Alessandra Pierani, Frédéric Causeret
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