Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein-Taybi and Filippi syndromes.

de Vries, Tamar I; Monroe, Glen R; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne Mc; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M

de Vries, Tamar I; Monroe, Glen R; van Belzen, Martine J; van der Lans, Christian A; Savelberg, Sanne Mc; Newman, William G; van Haaften, Gijs; Nievelstein, Rutger A; van Haelst, Mieke M.

Afiliação

de Vries TI; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Monroe GR; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
van Belzen MJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
van der Lans CA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
Savelberg SM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Newman WG; Manchester Centre for Genomic Medicine, Institute of Human Development, University of Manchester, Manchester, UK.
van Haaften G; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Nievelstein RA; Department of Pediatric Radiology, University Medical Center Utrecht/Wilhelmina Children's Hospital, Utrecht, The Netherlands.
van Haelst MM; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.

Eur J Hum Genet ; 24(9): 1363-6, 2016 08.

Article em En | MEDLINE | ID: mdl-26956253

Assuntos

Proteína de Ligação a CREB/genética; Transtornos do Crescimento/genética; Deficiência Intelectual/genética; Microcefalia/genética; Mosaicismo; Mutação; Síndrome de Rubinstein-Taybi/genética; Sindactilia/genética; Criança; Proteínas do Citoesqueleto/genética; Diagnóstico Diferencial; Fácies; Testes Genéticos/métodos; Transtornos do Crescimento/diagnóstico; Homozigoto; Humanos; Deficiência Intelectual/diagnóstico; Masculino; Microcefalia/diagnóstico; Fenótipo; Síndrome de Rubinstein-Taybi/diagnóstico; Sindactilia/diagnóstico

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Rubinstein-Taybi / Sindactilia / Proteína de Ligação a CREB / Transtornos do Crescimento / Deficiência Intelectual / Microcefalia / Mosaicismo / Mutação Idioma: En Ano de publicação: 2016 Tipo de documento: Article

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