Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations

Birth Defects Research Part A - Clinical and Molecular Teratology

Volumn 76, Issue 2, 2006, Pages 78-85

  Cunningham, Michael L ^a,b   Seto, Marianne L ^b   Hing, Anne V ^a,b   Bull, Marilyn J ^c   Hopkin, Robert J ^d   Leppig, Kathleen A ^e,f  

^a SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

^e CENTER FOR HEALTH STUDIES   (United States)

^f UNIVERSITY OF WASHINGTON   (United States)

Author keywords

Agenesis; C terminus; CBFa1; CCD; Cleidocranial dysplasia; Dysgenesis; Parietal bone; RUNX2

Indexed keywords

TRANSCRIPTION FACTOR RUNX2;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CALVARIA; CARBOXY TERMINAL SEQUENCE; CELL DIFFERENTIATION; CLEIDOCRANIAL DYSPLASIA; CONTROLLED STUDY; DISEASE SEVERITY; DNA BINDING; FRAMESHIFT MUTATION; GENE DISRUPTION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MALE; MUTATOR GENE; NOMENCLATURE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; REGULATOR GENE; RUNX2 GENE; SHORT STATURE; SIGNAL TRANSDUCTION; SKULL DEFECT; SKULL SUTURE; TOOTH MALFORMATION;

AMINO ACID SEQUENCE; BINDING SITES; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA-BINDING PROTEINS; FRAMESHIFT MUTATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; PARIETAL BONE; PHENOTYPE; POINT MUTATION; PROTEIN STRUCTURE, TERTIARY; SEVERITY OF ILLNESS INDEX;

ANIMALIA;

EID: 33644873015     PISSN: 15420752     EISSN: 15420760     Source Type: Journal    
DOI: 10.1002/bdra.20231     Document Type: Article

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