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Two novel variants and follow-up findings in four children with Bloom syndrome from two families.
Kasap, Busra; Guclu-Geyik, Filiz; Uludag Alkaya, Dilek; Cetin, Güven; Tuysuz, Beyhan.
Afiliação
  • Kasap B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty.
  • Guclu-Geyik F; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul.
  • Uludag Alkaya D; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty.
  • Cetin G; Department of Hematology-Oncology, Bezmialem Boundation University, Medical Faculty, Istanbul, Turkey.
  • Tuysuz B; Department of Pediatric Genetics, Istanbul University-Cerrahpasa, Cerrahpasa Medical Faculty.
Clin Dysmorphol ; 31(1): 31-35, 2022 Jan 01.
Article em En | MEDLINE | ID: mdl-34538859
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Bloom Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Bloom Idioma: En Ano de publicação: 2022 Tipo de documento: Article