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First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis

First Two Cases of Bloom Syndrome in Russia: Lack of Skin Manifestations in a BLM c.1642C>T (p.Q548X) Homozygote as a Likely Cause of Underdiagnosis

by Suspitsin, Evgeny N., Sibgatullina, Farida I., Lyazina, Lydia V., Imyanitov, Evgeny N.
Published in Molecular syndromology (01.03.2017)

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Journal Article