First Two Cases of Bloom Syndrome in Russia: Lack of Skin...

Molecular Syndromology 2017 Vol. 8; Iss. 2

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

Suspitsin, Evgeny N., Sibgatullina, Farida I., Lyazina, Lydia V., Imyanitov, Evgeny N.
How much do you like this book?
What’s the quality of the file?
Download the book for quality assessment
What’s the quality of the downloaded files?
Volume:
8
Year:
2017
Language:
english
Journal:
Molecular Syndromology
DOI:
10.1159/000454820
File:
PDF, 122 KB
english, 2017
Conversion to is in progress
Conversion to is failed