Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement.

Al-Kateb, Hussam; Khanna, Geetika; Filges, Isabel; Hauser, Natalie; Grange, Dorothy K; Shen, Joseph; Smyser, Christopher D; Kulkarni, Shashikant; Shinawi, Marwan

Al-Kateb, Hussam; Khanna, Geetika; Filges, Isabel; Hauser, Natalie; Grange, Dorothy K; Shen, Joseph; Smyser, Christopher D; Kulkarni, Shashikant; Shinawi, Marwan.

Al-Kateb H; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, Missouri.

Am J Med Genet A ; 164A(5): 1118-26, 2014 May.

Article en En | MEDLINE | ID: mdl-24458548

Asunto(s)

Escoliosis/diagnóstico; Escoliosis/genética; Columna Vertebral/anomalías; Adolescente; Niño; Preescolar; Aberraciones Cromosómicas; Cromosomas Humanos Par 16; Diagnóstico por Imagen; Facies; Femenino; Humanos; Hibridación Fluorescente in Situ; Lactante; Masculino; Análisis de Secuencia por Matrices de Oligonucleótidos; Fenotipo

Palabras clave

16p11.2 rearrangement; deletion; duplication; phenotype; scoliosis; vertebral anomalies

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Escoliosis / Columna Vertebral Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Adolescent / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Año: 2014 Tipo del documento: Article

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