The presence of germ line mosaicism in cleidocranial dysplasia

Clinical Genetics

Volumn 71, Issue 6, 2007, Pages 589-591

  Pal, Tuya ^a,b,c   Napierala, D ^d   Becker, T A ^e   Loscalzo, M ^a,b,c   Baldridge, D ^d   Lee, B ^d   Sutphen, R ^a,b,c  

^a UNIVERSITY OF SOUTH FLORIDA   (United States)

^b UNIVERSITY OF SOUTH FLORIDA   (United States)

^c H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e JOHNS HOPKINS ALL CHILDREN S HOSPITAL   (United States)

Author keywords

Cleidocranial dysostosis; Cleidocranial dysplasia; Germ line mosaicism; RUNX2 gene

Indexed keywords

TRANSCRIPTION FACTOR RUNX2;

ARTICLE; BLOOD ANALYSIS; CASE REPORT; CLEIDOCRANIAL DYSPLASIA; DNA ISOLATION; DNA SCREENING; FEMALE; GENE MUTATION; GERM LINE; HETERODUPLEX ANALYSIS; HETEROZYGOTE; HUMAN; MALE; MATERNAL BLOOD; MOLECULAR CLONING; MOSAICISM; ORAL BIOPSY; PRIORITY JOURNAL; SOMATIC CELL;

ADULT; CHILD, PRESCHOOL; CLEIDOCRANIAL DYSPLASIA; CORE BINDING FACTOR ALPHA 1 SUBUNIT; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GERM-LINE MUTATION; HUMANS; INFANT; MALE; MOSAICISM;

EID: 34249742160     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00812.x     Document Type: Article

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