Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Fannemel, Madeleine; Barøy, Tuva; Holmgren, Asbjørn; Rødningen, Olaug K; Haugsand, Trine M; Hansen, Børre; Frengen, Eirik; Misceo, Doriana

Haploinsufficiency of XPO1 and USP34 by a de novo 230 kb deletion in 2p15, in a patient with mild intellectual disability and cranio-facial dysmorphisms.

Fannemel, Madeleine; Barøy, Tuva; Holmgren, Asbjørn; Rødningen, Olaug K; Haugsand, Trine M; Hansen, Børre; Frengen, Eirik; Misceo, Doriana.

Afiliação

Fannemel M; Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address: uxmafa@ous-hf.no.
Barøy T; Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address: tuva.baroy@medisin.uio.no.
Holmgren A; Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address: asbjorn.holmgren@medisin.uio.no.
Rødningen OK; Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address: uxrdol@ous-hf.no.
Haugsand TM; Department for Adult Habilitation, Akershus University Hospital, Oslo, Norway. Electronic address: trine.haugsand@ahus.no.
Hansen B; Department for Adult Habilitation, Akershus University Hospital, Oslo, Norway. Electronic address: borre.hansen@ahus.no.
Frengen E; Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address: eirik.frengen@medisin.uio.no.
Misceo D; Department of Medical Genetics, University of Oslo and Oslo University Hospital, Oslo, Norway. Electronic address: doriana.misceo@medisin.uio.no.

Eur J Med Genet ; 57(9): 513-9, 2014 Sep.

Article em En | MEDLINE | ID: mdl-24911659

Assuntos

Deleção Cromossômica; Cromossomos Humanos Par 2; Anormalidades Craniofaciais/genética; Haploinsuficiência; Deficiência Intelectual/genética; Carioferinas/genética; Receptores Citoplasmáticos e Nucleares/genética; Proteases Específicas de Ubiquitina/genética; Adulto; Hibridização Genômica Comparativa; Fácies; Heterogeneidade Genética; Humanos; Cariotipagem; Masculino; Fenótipo; Adulto Jovem; Proteína Exportina 1

Palavras-chave

2p15p16.1 Deletion syndrome; Congenital anomalies; Dysmorphic features; Intellectual disability; USP34; XPO1 or CRM1

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 2 / Deleção Cromossômica / Receptores Citoplasmáticos e Nucleares / Anormalidades Craniofaciais / Carioferinas / Haploinsuficiência / Proteases Específicas de Ubiquitina / Deficiência Intelectual Limite: Adult / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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