Novel PAX9 and COL1A2 Missense Mutations Causing Tooth Agenesis and OI/DGI without Skeletal Abnormalities

PLoS ONE

Volumn 7, Issue 12, 2012, Pages

  Wang, Shih Kai ^a   Chan, Hui Chen ^a   Makovey, Igor ^a   Simmer, James P ^a   Hu, Jan C C ^a  

^a UNIVERSITY OF MICHIGAN SCHOOL OF DENTISTRY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX9;

ARTICLE; BONE RADIOGRAPHY; CASE REPORT; CHILD; COL1A1 GENE; COL1A2 GENE; DNA HAIRPIN; FAMILIAL DISEASE; GENE; HUMAN; HYPODONTIA; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; OSTEOGENESIS IMPERFECTA; PAX9 GENE; PHENOTYPE; PRESCHOOL CHILD; TOOTH MALFORMATION;

BASE SEQUENCE; BONE AND BONES; CHILD, PRESCHOOL; COLLAGEN TYPE I; DENTINOGENESIS IMPERFECTA; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OSTEOGENESIS IMPERFECTA; PAX9 TRANSCRIPTION FACTOR; PEDIGREE; TOOTH; TOOTH ABNORMALITIES;

EID: 84870769348     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0051533     Document Type: Article

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