Genetic and clinical heterogeneity of ferroportin disease
نویسندگان
چکیده
منابع مشابه
Genetic disorders of iron overload and the novel "ferroportin disease".
A positive iron balance inevitably leads to iron overload. 1 Excluding red blood cell transfusion, iron loading usually reflects an altered mucosal regulation of iron absorption, observed both in genetic conditions not associated with anemia and in iron-loading anemias. 2,3 The best characterized form of genetic iron overload is a common recessive HLA-linked disorder, initially called idiopathi...
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From the Servicio d Guadalajara, Guadal lidades Médicas, U zServicio de Radiolo dalajara, and the §In Madrid, Spain. Address correspondence Jiménez, PhD, Cen Hospital 12 de Octub (e-mail: moranjimen The authors report no co Copyright # 2016 by E Hepatology, and Nu Gastroenterology, H article distributed un tion-Non Commerci where it is permissib properly cited. The commercially withou DOI: 10.1...
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Osteogenesis imperfecta is a hereditary connective tissue disorder characterized primarily by fractures with no or small causal antecedent; in most patients this is a consequence of diminished or abnormal production of collagen type I. It is a clinically heterogeneous disorder: it has been proposed recently to classify osteogenesis imperfecta in types I-V on the basis of the clinical picture an...
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Mutations in the LMNA gene encoding lamins A/C are responsible for more than ten different disorders called laminopathies which affect various tissues in an isolated (striated muscle, adipose tissue or peripheral nerve) or systemic (premature aging syndromes) fashion. Overlapping phenotypes are also observed. Associated with this wide clinical variability, there is also a large genetic heteroge...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2005
ISSN: 0007-1048,1365-2141
DOI: 10.1111/j.1365-2141.2005.05815.x