Constitutional mismatch repair deficiency in a healthy child: On the spot diagnosis?

Suerink, M; Potjer, T P; Versluijs, A B; Ten Broeke, S W; Tops, C M; Wimmer, K; Nielsen, M

Suerink, M; Potjer, T P; Versluijs, A B; Ten Broeke, S W; Tops, C M; Wimmer, K; Nielsen, M.

Afiliación

Suerink M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Potjer TP; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Versluijs AB; Department of Pediatric Hematology, University Medical Centre, Utrecht, The Netherlands.
Ten Broeke SW; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Tops CM; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.
Wimmer K; Division Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Nielsen M; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

Clin Genet ; 93(1): 134-137, 2018 Jan.

Article en En | MEDLINE | ID: mdl-28503822

Asunto(s)

Reparación de la Incompatibilidad de ADN/genética; Enzimas Reparadoras del ADN/deficiencia; Enzimas Reparadoras del ADN/genética; Niño; Consanguinidad; Salud de la Familia; Femenino; Humanos; Endonucleasa PMS2 de Reparación del Emparejamiento Incorrecto/genética; Mutación; Linaje

Palabras clave

CMMRD; HNPCC; PMS2; bMMRD; Lynch syndrome; cafe-au-lait macules; hereditary cancer syndromes; recessive genetic conditions

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Enzimas Reparadoras del ADN / Reparación de la Incompatibilidad de ADN Tipo de estudio: Diagnostic_studies / Guideline / Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Clin Genet Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos

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