@article{bc8ba3e8fc634874b0a2a2ba0c113476,
title = "Comparison of the clinical phenotype and haematological course of siblings with Fanconi anaemia",
abstract = "Fanconi anaemia (FA) is a genetic disorder due to mutations in any of the 22 FANC genes (FANCA–FANCW) and has high phenotypic variation. Siblings may have similar clinical outcome because they share the same variants; however, such association has not been reported. We present the detailed phenotype and clinical course of 25 sibling sets with FA from two institutions. Haematological progression significantly correlated between siblings, which was confirmed in an additional 55 sibling pairs from the International Fanconi Anemia Registry. Constitutional abnormalities were not concordant, except for a moderate degree of concordance in kidney abnormalities and microcephaly.",
keywords = "AML, Fanconi anemia, MDS, bone marrow failure, prognosis, sibling",
author = "Moonjung Jung and Mehta, {Parinda A.} and Jiang, {Caroline S.} and Rosti, {Rasim O.} and Gabriel Usleaman and {Correa da Rosa}, {Joel M.} and Lach, {Francis P.} and Erica Goodridge and Auerbach, {Arleen D.} and Davies, {Stella M.} and Agata Smogorzewska and Farid Boulad",
note = "Funding Information: We thank the individuals and the families who participated in this study. This work was supported by grants from the National Heart Lung and Blood Institute (R01 HL120922) (A.S.), (K99 HL150628) (M.J.) National Cancer Institute (R01 CA204127) (A.S.), National Center for Advancing Translational Sciences (UL1 TR001866) (M.J., C.S.J. and A.S.) and American Society of Hematology Scholar Award (M.J.). A.S. is a HHMI faculty scholar. F.B. acknowledges support from the MSK Cancer Center Support Grant P30 CA008748. Funding Information: We thank the individuals and the families who participated in this study. This work was supported by grants from the National Heart Lung and Blood Institute (R01 HL120922) (A.S.), (K99 HL150628) (M.J.) National Cancer Institute (R01 CA204127) (A.S.), National Center for Advancing Translational Sciences (UL1 TR001866) (M.J., C.S.J. and A.S.) and American Society of Hematology Scholar Award (M.J.). A.S. is a HHMI faculty scholar. F.B. acknowledges support from the MSK Cancer Center Support Grant P30 CA008748. Publisher Copyright: {\textcopyright} 2020 British Society for Haematology and John Wiley & Sons Ltd",
year = "2021",
month = jun,
doi = "10.1111/bjh.17061",
language = "English (US)",
volume = "193",
pages = "971--975",
journal = "British journal of haematology",
issn = "0007-1048",
publisher = "Wiley-Blackwell",
number = "5",
}