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Identification of kinesin family member (KIF22) homozygous variants in spondyloepimetaphyseal dysplasia with joint laxity, lepdodactylic type and demonstration of proteoglycan biosynthesis impairment

Document Type

Journal

Author

Dubail, Johanne; Rondeau, Sophie; Michot, Caroline; Baujat, Genevieve; Capri, Yline; Thevenon, Julien; Charpie, Maelle; Pejin, Zagorka; Phan, Gilles; Huber, Celine; Cormier-Daire, Valerie

Source

JOURNAL OF BONE AND MINERAL RESEARCH; APR 19 2024, 39 3, p287-p297, 11p.

Subject

Language

English

ISSN

15234681

Online Access

Full Text (Oxford University Press) Full Text (Wiley Journals) Open Access (EBSCO) Web of Science JCR 저널정보 Scopus Find it@PNU

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