Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.
Journal Information
Full Title: Mol Genet Genomic Med
Abbreviation: Mol Genet Genomic Med
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 INTEREST STATEMENT There are no competing interests for any author."
"FUNDING INFORMATION This work was supported by the Science and Technology Program of Gansu Province (Grant No. 21JR7RA680), the National Key Research and Development Program of China (Grant No. 2016YFC1000307), the Lanzhou Science and Technology Plan Project (Grant No. 2021‐1‐182), the National Population and Reproductive Health Science Data Center (Grant No. 2005DKA32408), the Lanzhou Science and Technology Plan Project (Grant No. 2022‐5‐81), and the Lanzhou Talent Innovation and Entrepreneurship Project (Grant No. 2018‐RC‐95)."
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Last Updated: Aug 05, 2025