A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

BMC Medical Genetics

Volumn 8, Issue , 2007, Pages

  Tang, Shaohua ^a   Xu, Qiyu ^a   Xu, Xueqin ^a   Du, Jicheng ^a   Yang, Xuemei ^a   Jiang, Yusheng ^a   Wang, Xiaoqin ^a   Speck, Nancy ^b   Huang, Taosheng ^c  

^a Wenzhou No2 Hospital   (China)

^b DARTMOUTH MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CORE BINDING FACTOR BETA; LEUCINE; PROLINE; TRANSCRIPTION FACTOR RUNX2; DNA BINDING PROTEIN; RUNX2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; CHINESE; CLEIDOCRANIAL DYSPLASIA; CLINICAL ARTICLE; CLINICAL FEATURE; CRYSTAL STRUCTURE; DNA BINDING; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENETIC VARIABILITY; HUMAN; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NAIL DISEASE; PEDIGREE ANALYSIS; PHENOTYPE; PRENATAL DIAGNOSIS; PROTEIN DNA INTERACTION; CASE REPORT; CHINA; GENETICS; HYPERPLASIA; PATHOLOGY; PEDIGREE;

ADULT; CHINA; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA-BINDING PROTEINS; FEMALE; HUMANS; HYPERPLASIA; MALE; MUTATION, MISSENSE; NAILS, MALFORMED; PEDIGREE;

EID: 39049100912     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-8-82     Document Type: Article

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