@article{279077ed151d42ad82068209b48090e1,
title = "Health supervision for people with Bloom syndrome",
abstract = "Bloom Syndrome (BSyn) is an autosomal recessive disorder that causes growth deficiency, endocrine abnormalities, photosensitive skin rash, immune abnormalities, and predisposition to early-onset cancer. The available treatments for BSyn are symptomatic, and early identification of complications has the potential to improve outcomes. To accomplish this, standardized recommendations for health supervision are needed for early diagnosis and treatment. The purpose of this report is to use information from the BSyn Registry, published literature, and expertise from clinicians and researchers with experience in BSyn to develop recommendations for diagnosis, screening, and treatment of the clinical manifestations in people with BSyn. These health supervision recommendations can be incorporated into the routine clinical care of people with BSyn and can be revised as more knowledge is gained regarding their clinical utility.",
keywords = "Bloom syndrome, DNA repair, cancer surveillance, chromosome instability, health supervision",
author = "Christopher Cunniff and Djavid, {Amir Reza} and Steven Carrubba and Bernard Cohen and Ellis, {Nathan A.} and Levy, {Carolyn Fein} and Stacy Jeong and Lederman, {Howard M.} and Maria Vogiatzi and Walsh, {Michael F.} and Zauber, {Ann Graham}",
note = "Funding Information: information New York Community Trust; Clinical and Translational Science Center, Weill Cornell Medicine; National Center for Advancing Translational Sciences of the National Institutes of Health, Grant/Award Number: UL1TR000457The authors dedicate this report to the late Dr. James German, in acknowledgement of his lifelong contributions to our understanding of BSyn and his heartfelt devotion to those with BSyn and their families. We also acknowledge the patients and families who provided their information to the BSyn Registry, without whom this work would not be possible. This work was supported, in part, by the New York Community Trust, Weill Cornell Medicine's Clinical and Translational Science Center, and the National Center for Advancing Translational Science of the National Institute of Health Under Award Number UL1TR000457. Funding Information: The authors dedicate this report to the late Dr. James German, in acknowledgement of his lifelong contributions to our understanding of BSyn and his heartfelt devotion to those with BSyn and their families. We also acknowledge the patients and families who provided their information to the BSyn Registry, without whom this work would not be possible. This work was supported, in part, by the New York Community Trust, Weill Cornell Medicine{\textquoteright}s Clinical and Translational Science Center, and the National Center for Advancing Translational Science of the National Institute of Health Under Award Number UL1TR000457. Publisher Copyright: {\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = sep,
doi = "10.1002/ajmg.a.40374",
language = "English (US)",
volume = "176",
pages = "1872--1881",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "9",
}