Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome.

van Amen-Hellebrekers, Claudia J M; Jansen, Sandra; Stegmann, Alexander P A; Stevens, Servi J C; Pfundt, Rolph; de Vries, Bert B A

van Amen-Hellebrekers, Claudia J M; Jansen, Sandra; Stegmann, Alexander P A; Stevens, Servi J C; Pfundt, Rolph; de Vries, Bert B A.

Afiliação

van Amen-Hellebrekers CJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Jansen S; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands.
Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.
de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

Am J Med Genet A ; 173(12): 3238-3240, 2017 12.

Article em En | MEDLINE | ID: mdl-29048725

Assuntos

Alelos; Proteínas de Transporte/genética; Catarata/diagnóstico; Catarata/genética; Fatores de Troca do Nucleotídeo Guanina/genética; Deficiência Intelectual/diagnóstico; Deficiência Intelectual/genética; Estudos de Associação Genética; Genótipo; Humanos; Mutação com Perda de Função; Masculino; Pessoa de Meia-Idade; Fenótipo; Síndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Catarata / Proteínas de Transporte / Fatores de Troca do Nucleotídeo Guanina / Alelos / Deficiência Intelectual Tipo de estudo: Prognostic_studies Limite: Humans / Male / Middle aged Idioma: En Ano de publicação: 2017 Tipo de documento: Article

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