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Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21.

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

Author information

1
Texas Children's Hospital, Houston, TX.
2
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
3
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
4
Rady Children's Institute for Genomic Medicine, San Diego, CA.
5
Genetics Institute, Tel Aviv Sourasky Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
6
Department of Obstetrics, Gynecology, and Reproductive Sciences, School of Medicine.
7
Department of Pathology, School of Medicine, and.
8
Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA.
9
Department of Ophthalmology, Baylor College of Medicine, Houston, TX.
10
University of Iowa, Iowa City, IA.
11
Department of Pathology and Immunology and.
12
Section of Hematology and Oncology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
13
US Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Section of Nutrition, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
14
Laboratory of Immune System Biology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD.
15
The Human Genome Sequencing Center and.
16
Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX; and.
17
Program in Molecular Medicine, University of Massachusetts Medical School, Worcester, MA.
PMID:
29784638
PMCID:
PMC6085991
[Available on 2019-08-09]
DOI:
10.1182/blood-2017-12-824433

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