Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome : paternal deletion of the epsilon-sarcoglycan (SGCE) gene
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概要
- 論文の詳細を見る
- 2008-10-01
著者
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Gregoire M.
Nancy Universite-ea 4002 Laboratoire De Genetique Centre Hospitalier Universitaire De Nancy-brabois
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Bonnet C.
Nancy Universite-ea 4002 Laboratoire De Genetique Centre Hospitalier Universitaire De Nancy-brabois
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GREGOIRE M.-J.
Nancy Universite-EA 4002, Laboratoire de Genetique, Centre Hospitalier Universitaire de Nancy-Braboi
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VIBERT M.
Service de Pediatrie, Maternite-Hopital Sainte-Croix
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RAFFO E.
Service de Medicine Infantile I, Centre Hospitalier Universitaire de Nancy
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LEHEUP B.
Service de Medicine Infantile III et Genetique Clinique, Centre Hospitalier Universitaire de Nancy
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JONVEAUX P.
Nancy Universite-EA 4002, Laboratoire de Genetique, Centre Hospitalier Universitaire de Nancy-Braboi
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Raffo E.
Service De Medicine Infantile I Centre Hospitalier Universitaire De Nancy
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Vibert M.
Service De Pediatrie Maternite-hopital Sainte-croix
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Jonveaux P.
Nancy Universite-ea 4002 Laboratoire De Genetique Centre Hospitalier Universitaire De Nancy-brabois
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Leheup B.
Service De Medicine Infantile Iii Et Genetique Clinique Centre Hospitalier Universitaire De Nancy
関連論文
- Cryptic 7q21 and 9p23 deletions in a patient with apparently balanced de novo reciprocal translocation t(7;9)(q21;p23) associated with a dystonia-plus syndrome : paternal deletion of the epsilon-sarcoglycan (SGCE) gene
- Pure de-novo 5Mb duplication at Xp11.22-p11.23 in a male : phenotypic and molecular characterization