Two novel RAD21 mutations in patients with mild Cornelia de Lange syndrome-like presentation and report of the first familial case.

Minor, Agata; Shinawi, Marwan; Hogue, Jacob S; Vineyard, Marisa; Hamlin, Damara R; Tan, Christopher; Donato, Kirsten; Wysinger, Latrice; Botes, Shaun; Das, Soma; Del Gaudio, Daniela

Minor, Agata; Shinawi, Marwan; Hogue, Jacob S; Vineyard, Marisa; Hamlin, Damara R; Tan, Christopher; Donato, Kirsten; Wysinger, Latrice; Botes, Shaun; Das, Soma; Del Gaudio, Daniela.

Afiliación

Minor A; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Shinawi M; Department of Pediatrics, Division Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Hogue JS; Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX, USA.
Vineyard M; Department of Pediatrics, Division Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, USA.
Hamlin DR; Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX, USA.
Tan C; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Donato K; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Wysinger L; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Botes S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Das S; Department of Human Genetics, University of Chicago, Chicago, IL, USA.
Del Gaudio D; Department of Human Genetics, University of Chicago, Chicago, IL, USA. Electronic address: ddelgaudio@bsd.uchicago.edu.

Gene ; 537(2): 279-84, 2014 Mar 10.

Article en En | MEDLINE | ID: mdl-24378232

Asunto(s)

Síndrome de Cornelia de Lange/etiología; Mutación; Proteínas Nucleares/genética; Fosfoproteínas/genética; Adulto; Proteínas de Ciclo Celular; Preescolar; Proteínas de Unión al ADN; Síndrome de Cornelia de Lange/genética; Discapacidades del Desarrollo/genética; Exones; Femenino; Mutación del Sistema de Lectura; Hirsutismo/genética; Humanos; Masculino; Linaje

Palabras clave

CdLS; Cornelia de Lange Syndrome; Cornelia de Lange syndrome; Exonic copy number variants; Frameshift mutation; Germline mutation; OFC; RAD21; comparative threshold cycle method; ddCt; occipitofrontal circumference

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Fosfoproteínas / Proteínas Nucleares / Síndrome de Cornelia de Lange / Mutación Tipo de estudio: Prognostic_studies Límite: Adult / Child, preschool / Female / Humans / Male Idioma: En Revista: Gene Año: 2014 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Países Bajos

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