Associated Papers
A Novel KDF1 Variant is Associated With Multiple Natal Teeth, Tooth Agenesis, and Root Maldevelopment.
Graham JM et al.
International Dental Journal, 2025
Genetic and phenotypic heterogeneity of tooth agenesis: An update including candidate genes.
Li W et al.
Archives of Oral Biology, 2025
Novel familial KDF1 mutation detected in members of a three-generation family with clinical manifestations of ectodermal dysplasia: A report of four cases.
Keramida C et al.
Biomedical Reports, 2025
Tooth agenesis related to a novel KDF1 variant: A case report and literature review.
Intarak N et al.
Oral Diseases, 2024
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Fig___Tables.pdf
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1
Gain-of-function variants in the KDF1 gene cause hidradenitis suppurativa associated with ectodermal dysplasia by stabilizing IκB kinase α.
Ziegler A et al.
The British Journal of Dermatology, 2023
Enamel Structure Defects in Kdf1 Missense Mutation Knock-in Mice.
Li P et al.
Biomedicines, 2023
KDF1 Novel Variant Causes Unique Dental and Oral Epithelial Defects.
Yu M et al.
International Journal of Molecular Sciences, 2022
Identification of a novel missense heterozygous mutation in the KDF1 gene for non-syndromic congenital anodontia.
Pan Y et al.
Clinical Oral Investigations, 2022
A novel de novo mutation substantiates KDF1 as a gene causing ectodermal dysplasia.
Manaspon C et al.
The British Journal of Dermatology, 2019
KDF1, encoding keratinocyte differentiation factor 1, is mutated in a multigenerational family with ectodermal dysplasia.
Shamseldin HE et al.
Human Genetics, 2017
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