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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Bibliografske podrobnosti
Main Authors: Masmoudi, Abderrahmen, Marrakchi, Slaheddine, Kamoun, Hassen, Chaaben, Hend, Ben Salah, Gada, Ben Salah, Raida, Fakhfakh, Faiza, Zahaf, Abdelmajid, Turki, Hamida
Format: Artigo
Jezik:Inglês
Izdano: Specjalisci Dermatolodzy 2012
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Article
Online dostop: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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