Associated Papers
Truncated Variants in FAM20A and WDR72 Genes Underlie Autosomal Recessive Amelogenesis Imperfecta in Four Pakistani Families.
Ullah S et al.
Biochemical Genetics, 2026
Genetic Screening of a Nonsyndromic Amelogenesis Imperfecta Patient Cohort Using a Custom smMIP Reagent for Selective Enrichment of Target Loci.
Hany U et al.
Human Mutation, 2025
Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.
Kim YJ et al.
Journal of Personalized Medicine, 2023
Phenotypic variability in distal acidification defects associated with WDR72 mutations.
Khandelwal P et al.
Pediatric Nephrology (berlin, Germany), 2021
Distal renal tubular acidosis caused by tryptophan-aspartate repeat domain 72 (WDR72) mutations.
Rungroj N et al.
Clinical Genetics, 2018
Genomic alterations accompanying tumour evolution in colorectal cancer: tracking the differences between primary tumours and synchronous liver metastases by whole-exome sequencing.
Mogensen MB et al.
Bmc Cancer, 2018
30029640 (PubMed )
Supplement: 12885_2018_4639_MOESM1_ESM.xlsx › Ark1
WDR72 models of structure and function: a stage-specific regulator of enamel mineralization.
Katsura KA et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2014
A Novel Homozygous WDR72 Mutation in Two Siblings with Amelogenesis Imperfecta and Mild Short Stature.
Kuechler A et al.
Molecular Syndromology, 2012
Target gene analyses of 39 amelogenesis imperfecta kindreds.
Chan HC et al.
European Journal of Oral Sciences, 2011
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