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

Publisher: Karger

E-ISSN: 1661-8777|8|2|103-106

ISSN: 1661-8769

Source: Molecular Syndromology, Vol.8, Iss.2, 2017-01, pp. : 103-106

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