Associated Papers
Clinical and molecular mechanistic insights into the WDR72 mutation.
Gupta A et al.
Bmj Case Reports, 2025
Clinical characteristics and genetic profile of children with WDR72-associated distal renal tubular acidosis: a nationwide experience.
Deepthi B et al.
Pediatric Nephrology (berlin, Germany), 2025
Using computer-generated protein models to analyze mutations linked to Amelogenesis Imperfecta.
Sharmin N et al.
Plos One, 2025
Novel WDR72 Mutations Causing Hypomaturation Amelogenesis Imperfecta.
Kim YJ et al.
Journal of Personalized Medicine, 2023
Identification of the C-terminal region in Amelogenesis Imperfecta causative protein WDR72 required for Golgi localization.
Husein D et al.
Scientific Reports, 2022
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
Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
El-Sayed W et al.
Cells, Tissues, Organs, 2011
Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
El-Sayed W et al.
American Journal of Human Genetics, 2009
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