Revesz syndrome revisited

Revesz syndrome revisited

Abstract Background Revesz syndrome (RS) is an extremely rare variant of dyskeratosis congenita (DKC) with only anecdotal reports in the literature. Methods To further characterize the typical features and natural course of the disease, we screened the English literature and summarized the clinical...

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Bibliographic Details
Main Authors: Michael Karremann, Eva Neumaier-Probst, Frank Schlichtenbrede, Fabian Beier, Tim H. Brümmendorf, Friedrich W. Cremer, Peter Bader, Matthias Dürken
Format: Article
Language:English
Published: BMC 2020-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Bone marrow failure
Cerebellar hypoplasia
Exudative retinopathy
Growth retardation
Pancytopenia
Revesz syndrome
Online Access:http://link.springer.com/article/10.1186/s13023-020-01553-y

Internet

http://link.springer.com/article/10.1186/s13023-020-01553-y

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