Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma.

Ji, Jianling; Quindipan, Catherine; Parham, David; Shen, Lishuang; Ruble, David; Bootwalla, Moiz; Maglinte, Dennis T; Gai, Xiaowu; Saitta, Sulagna C; Biegel, Jaclyn A; Mascarenhas, Leo

Ji, Jianling; Quindipan, Catherine; Parham, David; Shen, Lishuang; Ruble, David; Bootwalla, Moiz; Maglinte, Dennis T; Gai, Xiaowu; Saitta, Sulagna C; Biegel, Jaclyn A; Mascarenhas, Leo.

Afiliación

Ji J; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Quindipan C; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.
Parham D; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Shen L; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.
Ruble D; Department of Pediatrics, Keck School of Medicine, University of Southern California, Los Angeles, California.
Bootwalla M; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Maglinte DT; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Gai X; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Saitta SC; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Biegel JA; Department of Pathology and Laboratory Medicine, Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California.
Mascarenhas L; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California.

Am J Med Genet A ; 173(5): 1390-1395, 2017 May.

Article en En | MEDLINE | ID: mdl-28371217

Asunto(s)

ADN Helicasas/genética; Discapacidad Intelectual/genética; Discapacidad Intelectual Ligada al Cromosoma X/genética; Proteínas Nucleares/genética; Osteosarcoma/genética; Talasemia alfa/genética; Adolescente; Adulto; Secuencia de Bases; Exoma/genética; Femenino; Mutación de Línea Germinal; Heterocigoto; Humanos; Discapacidad Intelectual/complicaciones; Discapacidad Intelectual/fisiopatología; Masculino; Discapacidad Intelectual Ligada al Cromosoma X/complicaciones; Discapacidad Intelectual Ligada al Cromosoma X/fisiopatología; Osteosarcoma/complicaciones; Osteosarcoma/fisiopatología; Linaje; Hermanos; Proteína Nuclear Ligada al Cromosoma X; Talasemia alfa/complicaciones; Talasemia alfa/fisiopatología

Palabras clave

ATR-X syndrome; cancer predisposition syndrome; chromosomal microarray; intellectual disability; osteosarcoma; tumor; whole exome sequencing

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Proteínas Nucleares / Osteosarcoma / Talasemia alfa / ADN Helicasas / Discapacidad Intelectual Ligada al Cromosoma X / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article

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