A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.

Authors:
Sun J; Yang N; Xu Z; Cheng H; Zhang X.

Journal:
Mol Genet Genomic Med

Publication Year: 2024

DOI:
10.1002/mgg3.2393

PMCID:
PMC10844838

PMID:
38407575

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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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Last Updated: Aug 05, 2025