Bloom syndrome does not always present with sun-sensitive facial erythema.

Bouman, Arjan; van Koningsbruggen, Silvana; Karakullukcu, M Baris; Schreuder, Willem Hans; Lakeman, Phillis

Bouman, Arjan; van Koningsbruggen, Silvana; Karakullukcu, M Baris; Schreuder, Willem Hans; Lakeman, Phillis.

Afiliação

Bouman A; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
van Koningsbruggen S; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Karakullukcu MB; Department of Head and Neck Oncology and Surgery, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Schreuder WH; Department of Head and Neck Oncology and Surgery, The Netherlands Cancer Institute, Antoni van Leeuwenhoek Hospital, Amsterdam, The Netherlands.
Lakeman P; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands. Electronic address: p.lakeman@amc.uva.nl.

Eur J Med Genet ; 61(2): 94-97, 2018 Feb.

Article em En | MEDLINE | ID: mdl-29056561

Assuntos

Síndrome de Bloom/patologia; Eritema/patologia; Fenótipo; Adulto; Síndrome de Bloom/genética; Diagnóstico Diferencial; Eritema/etiologia; Eritema/genética; Feminino; Humanos; RecQ Helicases/genética; Luz Solar/efeitos adversos

Palavras-chave

BLM; Bloom syndrome; Facial erythema; Facial rash; Short stature

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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fenótipo / Síndrome de Bloom / Eritema Tipo de estudo: Diagnostic_studies / Etiology_studies Limite: Adult / Female / Humans Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Holanda

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