Report of two Chinese patients suffering from CLCN7-related osteopetrosis and root dysplasia

Journal of Cranio-Maxillofacial Surgery

Volumn 40, Issue 5, 2012, Pages 416-420

  Xue, Yang ^a   Wang, Weiguang ^b   Mao, Tianqiu ^a   Duan, Xiaohong ^a  

^a FOURTH MILITARY MEDICAL UNIVERSITY   (China)

^b FOURTH MILITARY MEDICAL UNIVERSITY   (China)

Author keywords

ClC 7; Osteopetrosis; Root dysplasia

Indexed keywords

ADULT; ALBERS SCHOENBERG DISEASE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT OSTEOPETROSIS TYPE II; AUTOSOMAL RECESSIVE INHERITANCE; BONE RADIOGRAPHY; CASE REPORT; CHINESE; CLCN7 GENE; CLINICAL EXAMINATION; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; FEMUR OSTEOMYELITIS; GENE; GENE DOSAGE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTERMEDIATE AUTOSOMAL RECESSIVE OSTEOPETROSIS; MALE; MANDIBLE OSTEOMYELITIS; MEDICAL HISTORY; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; OSTEOMYELITIS; PANORAMIC RADIOGRAPHY; PHENOTYPE; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TOOTH DEVELOPMENT; TOOTH MALFORMATION; TOOTH ROOT DYSPLASIA;

ADULT; ARGININE; BONE DENSITY; CHINA; CHLORIDE CHANNELS; DENTOFACIAL DEFORMITIES; GENES, RECESSIVE; GENETIC VARIATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; LEUCINE; MALE; OSTEOMYELITIS; OSTEOPETROSIS; OSTEOSCLEROSIS; PHENOTYPE; POINT MUTATION; PROLINE; TOOTH ABNORMALITIES; TOOTH ROOT; TOOTH, UNERUPTED; TRYPTOPHAN;

EID: 84862763261     PISSN: 10105182     EISSN: 18784119     Source Type: Journal    
DOI: 10.1016/j.jcms.2011.07.014     Document Type: Article

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