Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.

Authors:
Tian X; Zhang X; Zhang Q; Chen X; Zhou B and 6 more

Journal:
Mol Genet Genomic Med

Publication Year: 2023

DOI:
10.1002/mgg3.2308

PMCID:
PMC10767689

PMID:
38010033

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

Transparency Score
3/6
50.0% Transparent
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Evidence found in paper:

"CONFLICT OF INTEREST STATEMENT There are no competing interests for any author."

Evidence found in paper:

"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)."

Protocol Registration
Open Access
Paper is freely available to read
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Last Updated: Aug 05, 2025