CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age.

Publication Year: 2019

DOI:
10.1002/humu.23952

PMCID:
PMC7027858

PMID:
31705726

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

Transparency Score
2/6
0.0% Transparent
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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."

Evidence found in paper:

"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