| Title | Syndromic congenital myelofibrosis associated with a loss-of-function variant in . |
| Publication Type | Journal Article |
| Year of Publication | 2018 |
| Authors | Magoulas, PL, Shchelochkov, OA, Bainbridge, MN, Ben-Shachar, S, Yatsenko, S, Potocki, L, Lewis, RA, Searby, C, Marcogliese, AN, M Elghetany, T, Zapata, G, Hernández, PP, Gadkari, M, Einhaus, D, Muzny, DM, Gibbs, RA, Bertuch, AA, Scott, DA, Corvera, S, Franco, LM |
| Journal | Blood |
| Volume | 132 |
| Issue | 6 |
| Pagination | 658-662 |
| Date Published | 2018 Aug 09 |
| ISSN | 1528-0020 |
| Keywords | Abnormalities, 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 | There is a Commentary on this article in this issue.
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| DOI | 10.1182/blood-2017-12-824433 |
| Alternate Journal | Blood |
| PubMed ID | 29784638 |
| PubMed Central ID | PMC6085991 |
| Grant List | R01 DK089101 / DK / NIDDK NIH HHS / United States |