Clinical details of individuals with Rauch-Steindl syndrome due to NSD2 truncating variants.

Authors:
Nishi E; Yanagi K; Kaname T; Okamoto N.

Journal:
Mol Genet Genomic Med

Publication Year: 2024

DOI:
10.1002/mgg3.2396

PMCID:
PMC10865147

PMID:
38353053

View on PubMed View on PMC View Publisher
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 The authors declare no conflicts of interest."

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"FUNDING INFORMATION This work was supported by grants of the Initiative on Rare and Undiagnosed Diseases (IRUD) (23ek0109549s2503) from the Japanese Agency for Medical Research and Development (AMED)."

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Last Updated: Aug 05, 2025