Syndromic congenital myelofibrosis associated with a loss-of-function variant in .

TitleSyndromic congenital myelofibrosis associated with a loss-of-function variant in .
Publication TypeJournal Article
Year of Publication2018
AuthorsMagoulas, PL, Shchelochkov, OA, Bainbridge, MN, Ben-Shachar, S, Yatsenko, S, Potocki, L, Lewis, RA, Searby, C, Marcogliese, AN, M Elghetany, T, Zapata, G, Hern√°ndez, PP, Gadkari, M, Einhaus, D, Muzny, DM, Gibbs, RA, Bertuch, AA, Scott, DA, Corvera, S, Franco, LM
JournalBlood
Volume132
Issue6
Pagination658-662
Date Published2018 Aug 09
ISSN1528-0020
KeywordsAbnormalities, Multiple, Bone Marrow Transplantation, Child, Consanguinity, Fatal Outcome, Female, Gonadal Dysgenesis, 46,XY, Hematopoietic Stem Cell Transplantation, Humans, Infant, Intellectual Disability, Male, Pedigree, Phenotype, Primary Myelofibrosis, Syndrome, Vesicular Transport Proteins
Abstract

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DOI10.1182/blood-2017-12-824433
Alternate JournalBlood
PubMed ID29784638
PubMed Central IDPMC6085991
Grant ListR01 DK089101 / DK / NIDDK NIH HHS / United States

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