Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 7, 2012, Pages 1529-1534

  Fukami, Maki ^a   Tsuchiya, Takayoshi ^a,b   Takada, Shuji ^a   Kanbara, Akiko ^c   Asahara, Hiroshi ^a   Igarashi, Arisa ^a   Kamiyama, Yasunori ^c   Nishimura, Gen ^d   Ogata, Tsutomu ^a,e  

^a NATIONAL RESEARCH INSTITUTE FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^b DOKKYO MEDICAL UNIVERSITY   (Japan)

^c Imperial Foundation Saiseikai Utsunomiya Hospital   (Japan)

^d TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^e HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Campomelic dysplasia; Deletion; Enhancer; Inversion; Noncoding element

Indexed keywords

ARTICLE; BONE DEVELOPMENT; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME 17Q21; CHROMOSOME 17Q24; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME MAP; CLINICAL EVALUATION; CRANIOFACIAL MALFORMATION; DISEASE SEVERITY; EXON; GENE; GENE CONTROL; GENE FUNCTION; GENE LOCATION; GENE LOCUS; GENE REARRANGEMENT; GENETIC ANALYSIS; HUMAN; HYPOPLASIA; HYPOPLASTIC LEFT SCAPULA DISEASE; JAPANESE; MALE; MANDIBLE; NEWBORN; PARACENTRIC CHROMOSOME INVERSION; PIERRE ROBIN SYNDROME; PRIORITY JOURNAL; SCAPULA; SHOULDER DISEASE; SKULL DEVELOPMENT; SOX9 GENE;

5' FLANKING REGION; CAMPOMELIC DYSPLASIA; CHROMOSOME BANDING; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; MALE; PIERRE ROBIN SYNDROME; SOX9 TRANSCRIPTION FACTOR; TRANSLOCATION, GENETIC;

EID: 84862689346     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35308     Document Type: Article

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