Clinical and laboratory findings in 8 patients with Bloom's syndrome

Bloom's syndrome is a rare autosomal recessive disorder caused by germline mutation of the BLM gene. The objective of this study was to illustrate the clinical, biological and genetic characteristics of this syndrome through Tunisian series. We report in a retrospective study 8 case of bloom�...

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Detalhes bibliográficos
Main Authors: Masmoudi, Abderrahmen, Marrakchi, Slaheddine, Kamoun, Hassen, Chaaben, Hend, Ben Salah, Gada, Ben Salah, Raida, Fakhfakh, Faiza, Zahaf, Abdelmajid, Turki, Hamida
Formato: Artigo
Idioma:Inglês
Publicado em: Specjalisci Dermatolodzy 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3322108/
https://ncbi.nlm.nih.gov/pubmed/22514588
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3315/jdcr.2012.1086
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