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.

Afiliação

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 em En | MEDLINE | ID: mdl-24378232

Assuntos

Síndrome de Cornélia de Lange/etiologia; Mutação; Proteínas Nucleares/genética; Fosfoproteínas/genética; Adulto; Proteínas de Ciclo Celular; Pré-Escolar; Proteínas de Ligação a DNA; Síndrome de Cornélia de Lange/genética; Deficiências do Desenvolvimento/genética; Éxons; Feminino; Mutação da Fase de Leitura; Hirsutismo/genética; Humanos; Masculino; Linhagem

Palavras-chave

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 Base de dados: MEDLINE Assunto principal: Fosfoproteínas / Proteínas Nucleares / Síndrome de Cornélia de Lange / Mutação Tipo de estudo: Prognostic_studies Limite: Adult / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2014 Tipo de documento: Article

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