Novel FAM20A mutations in hypoplastic amelogenesis imperfecta

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

(2011) James O'Sullivan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex

(2011) Cheng Zhou et al.   HUMAN MUTATION

Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing

(2010) Emilie Lalonde et al.   HUMAN MUTATION

Novel WDR72 Mutation and Cytoplasmic Localization

(2010) S.-K. Lee et al.   JOURNAL OF DENTAL RESEARCH

FAM83H Mutations Cause ADHCAI and Alter Intracellular Protein Localization

(2010) S.-K. Lee et al.   JOURNAL OF DENTAL RESEARCH

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta

(2009) Walid El-Sayed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

FAM83H Mutations in Families with Autosomal-Dominant Hypocalcified Amelogenesis Imperfecta

(2008) Jung-Wook Kim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutational spectrum ofFAM83H: the C-terminal portion is required for tooth enamel calcification

(2008) Sook-Kyung Lee et al.   HUMAN MUTATION

Case Reports of a New Syndrome Associating Gingival Fibromatosis and Dental Abnormalities in a Consanguineous Family

(2008) Hercílio Martelli-Júnior et al.   JOURNAL OF PERIODONTOLOGY