A novel in-frame deletion of the RUNX2 gene causes a classic form of cleidocranial dysplasia

Journal of Bone and Mineral Metabolism

Volumn 32, Issue 1, 2014, Pages 96-99

  Matsushita, Masaki ^a   Kitoh, Hiroshi ^a   Kaneko, Hiroshi ^a   Mishima, Kenichi ^a   Itoh, Yasutomo ^a   Tokita, Yoshihito ^b   Ishiguro, Naoki ^a  

^a NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b INSTITUTE FOR DEVELOPMENTAL RESEARCH   (Japan)

Author keywords

Cleidocranial dysplasia; In frame deletion; PEBP2 ; Runt domain; RUNX2

Indexed keywords

CCAAT ENHANCER BINDING PROTEIN; ENHANCER BINDING PROTEIN 2BETA; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CHILD; CLEIDOCRANIAL DYSPLASIA; CLINICAL FEATURE; GENE; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; HUMAN; MALE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; THORAX RADIOGRAPHY; TRANSCRIPTION FACTOR RUNX2 GENE;

ANIMALS; CERCOPITHECUS AETHIOPS; CHILD, PRESCHOOL; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; COS CELLS; HUMANS; MALE; MUTANT PROTEINS; RADIOGRAPHY, THORACIC; SEQUENCE DELETION; TRANSCRIPTIONAL ACTIVATION;

EID: 84893727475     PISSN: 09148779     EISSN: 14355604     Source Type: Journal    
DOI: 10.1007/s00774-013-0456-7     Document Type: Article

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