Novel missense mutations and a 288-bp exonic insertion inPAX9 in families with autosomal dominant hypodontia
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference14 articles.
1. Gene Defect in Hypodontia: Exclusion of EGF, EGFR, and FGF-3 as Candidate Genes
2. Haploinsufficiency of PAX9 is associated with autosomal dominant hypodontia
3. A Novel Mutation in Human PAX9 Causes Molar Oligodontia
4. A Nonsense Mutation in MSX1 Causes Witkop Syndrome
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1. Genotype-phenotype pattern analysis of pathogenic PAX9 variants in Chinese Han families with non-syndromic oligodontia;Frontiers in Genetics;2023-03-28
2. Novel PAX9 compound heterozygous variants in a Chinese family with non-syndromic oligodontia and genotype-phenotype analysis of PAX9 variants;Journal of Applied Oral Science;2023
3. A novel case of homozygous PAX1 mutation associated with hypoparathyroidism;Therapeutic Advances in Rare Disease;2023-01
4. An in vitro and computational validation of a novel loss-of-functional mutation in PAX9 associated with non-syndromic tooth agenesis;Molecular Genetics and Genomics;2022-11-14
5. Detection of novel variant and functional study in a Chinese family with nonsyndromic oligodontia;Oral Diseases;2022-05-31
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