Biallelic mutations in <i>UGDH</i> cause congenital microcephaly.

Authors:
Shu L; Xie G; Mei D; Xu R; Liu S and 5 more

Journal:
Genes Dis

Publication Year: 2023

DOI:
10.1016/j.gendis.2022.12.007

PMCID:
PMC10363629

PMID:
37492747

Journal Information

Full Title: Genes Dis

Abbreviation: Genes Dis

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics & Heredity

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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"Conflict of interests All authors declare that there is no conflict of interests."

Evidence found in paper:

"Funding This work was supported by the Natural Science Foundation of Hunan Province, China (No. 2021JJ40280), the 10.13039/501100012166National Key Research and Development Program of China (No. 2021YFC1005300), the Major Scientific and Technological Projects for Collaborative Prevention and Control of Birth Defects in Hunan Province, China (No. 2019SK1010, 2019SK1014), the National Key R&D Program of China (No. 2019YFC1005100), the 10.13039/501100002767Hunan Provincial Science and Technology Department (China) (No. 2018SK2064), the Joint Construction Project of Henan Medical Science and Technology Project (China) (No. LHGJ20200618, 2018020633), and the Henan Engineering Research Center of Childhood Neurodevelopment Open Project (China) (No. SG201907)."

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Open Access
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Last Updated: Aug 05, 2025