A novel <i>GATA3</i> frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome.

Authors:
Huang B; Li S; Chai Y; Fan Y; Li X and 4 more

Journal:
Mol Genet Metab Rep

Publication Year: 2024

DOI:
10.1016/j.ymgmr.2024.101063

PMCID:
PMC10926224

PMID:
38469092

Journal Information

Full Title: Mol Genet Metab Rep

Abbreviation: Mol Genet Metab Rep

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

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

"Declaration of competing interest None."

Evidence found in paper:

"Funding information This research receive funding by the 10.13039/501100001809National Natural Science Foundation of China [82070854 to J. Q. Cui]."

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