Recurrent SOX9 deletion campomelic dysplasia due to somatic mosaicism in the father

American Journal of Medical Genetics, Part A

Volumn 143, Issue 8, 2007, Pages 866-870

  Smyk, M ^a   Obersztyn, E ^a   Nowakowska, B ^a,b   Bocian, E ^a   Cheung, S W ^b   Mazurczak, T ^a   Stankiewicz, P ^a,b  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Array CGH; Campomelic dysplasia; Microdeletion; Mosaicism; SOX9

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOME MOSAICISM; CAMPOMELIC DYSPLASIA; CASE REPORT; COMPARATIVE GENOMIC HYBRIDIZATION; DYSPLASIA; FEMALE; GENE; GENE DELETION; GENETIC ASSOCIATION; HETEROZYGOSITY; HUMAN; MALE; MICROARRAY ANALYSIS; PENETRANCE; PRIORITY JOURNAL; RECURRENCE RISK; SOMATIC MUTATION; SOX9 GENE;

BONE AND BONES; CHROMOSOMES, HUMAN, PAIR 17; FAMILY HEALTH; FATHERS; FEMALE; GENE DELETION; HIGH MOBILITY GROUP PROTEINS; HUMANS; INFANT, NEWBORN; MOSAICISM; MUTATION; NUCLEIC ACID HYBRIDIZATION; PENETRANCE; TRANSCRIPTION FACTORS;

EID: 34147112939     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31631     Document Type: Article

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