CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.
Journal Information
Full Title: Hum Mutat
Abbreviation: Hum Mutat
Country: Unknown
Publisher: Unknown
Language: N/A
Publication Details
Subject Category: Genetics, Medical
Available in Europe PMC: Yes
Available in PMC: Yes
PDF Available: No
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"CONFLICT OF INTERESTS N. K. is a distinguished Jean and George Brumley Professor and a paid consultant for and holds significant stock of Rescindo Therapeutics, Inc. Remaining authors declare that there are no conflict of interests."
"We are grateful to the families who participated in this study for their enthusiasm and interest in our work. We thank Dr. Stephen P. Robertson (University of Otago) for experimental advice and Ms. Erica Phillips (Duke University Cytogenetics Laboratory) for help with clinical genetic testing. The study was supported by a grant from Jubiläumsfond Oesterreichische Nationalbank Nr17627 (to J. V.); in part by a Grant‐in‐Aid for Scientific Research (C) 16K08251 (to S. M.), 19K07054 from the Japan Society for the Promotion of Science, Japan; by the Takeda Science Foundation (to S.M.); and U.S. National Institutes of Health grant DK096415 (to N. K.) and by a Grant‐in Aid for Research Center for Pathogenesis of Intractable Diseases from the Research Institute of Meijo University (to S.M. and S.Y.) MH106826 (to E. E. D.)"
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Last Updated: Aug 05, 2025