Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2882-2885

  Wada, Yuka ^a   Nishimura, Gen ^b   Nagai, Toshiro ^c   Sawai, Hideaki ^d   Yoshikata, Mayumi ^e   Miyagawa, Shinichirou ^f   Hanita, Takushi ^g   Sato, Seiji ^h   Hasegawa, Tomonobu ⁱ   Ishikawa, Shumpei ^j   Ogata, Tsutomu ^a  

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

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

^c DOKKYO MEDICAL UNIVERSITY   (Japan)

^d KYOTO UNIVERSITY   (Japan)

^e Hyogo Children's Hospital   (Japan)

^f NATIONAL HOSPITAL ORGANIZATION   (Japan)

^g TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^h Saitama City Hospital   (Japan)

ⁱ KEIO UNIVERSITY   (Japan)

^j UNIVERSITY OF TOKYO   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR SOX9;

ACAMPOMELIC CAMPOMELIC DYSPLASIA; CAMPOMELIC DYSPLASIA; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CLINICAL FEATURE; DYSPLASIA; FRAMESHIFT MUTATION; HUMAN; LETTER; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRIORITY JOURNAL;

BASE SEQUENCE; CAMPOMELIC DYSPLASIA; DNA COPY NUMBER VARIATIONS; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; SOX9 TRANSCRIPTION FACTOR;

EID: 71949122477     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33107     Document Type: Letter

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