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

被引：8

作者：

Magoulas, Pilar L. ^{[1
,2
]}

Shchelochkov, Oleg A. ^{[3
]}

Bainbridge, Matthew N. ^{[4
]}

Ben-Shachar, Shay ^{[5
]}

Yatsenko, Svetlana ^{[6
,7
,8
]}

Potocki, Lorraine ^{[1
,2
]}

Lewis, Richard A. ^{[2
,9
]}

Searby, Charles ^{[10
]}

Marcogliese, Andrea N. ^{[1
,11
,12
]}

Elghetany, M. Tarek ^{[1
,11
,12
]}

Zapata, Gladys ^{[2
,13
]}

Hernandez, Paula P. ^{[2
,13
]}

Gadkari, Manasi ^{[14
]}

Einhaus, Derek ^{[14
]}

Muzny, Donna M. ^{[15
]}

Gibbs, Richard A. ^{[15
]}

Bertuch, Alison A. ^{[1
,12
]}

Scott, Daryl A. ^{[1
,2
,16
]}

Corvera, Silvia ^{[17
]}

Franco, Luis M. ^{[14
]}

机构：

[1] Texas Childrens Hosp, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[3] NHGRI, Med Genom & Metab Genet Branch, NIH, Bethesda, MD 20892 USA

[4] Rady Childrens Inst Genom Med, San Diego, CA USA

[5] Tel Aviv Univ, Genet Inst, Tel Aviv Sourasky Med Ctr, Sackler Fac Med, Tel Aviv, Israel

[6] Univ Pittsburgh, Sch Med, Dept Obstet Gynecol & Reprod Sci, Pittsburgh, PA USA

[7] Univ Pittsburgh, Sch Med, Dept Pathol, Pittsburgh, PA USA

[8] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA

[9] Baylor Coll Med, Dept Ophthalmol, Houston, TX 77030 USA

[10] Univ Iowa, Iowa City, IA USA

[11] Baylor Coll Med, Dept Pathol & Immunol, Houston, TX 77030 USA

[12] Baylor Coll Med, Dept Pediat, Sect Hematol & Oncol, Houston, TX 77030 USA

[13] Baylor Coll Med, USDA ARS, Childrens Nutr Res Ctr, Sect Nutr,Dept Pediat, Houston, TX 77030 USA

[14] NIAID, Lab Immune Syst Biol, NIH, 9000 Rockville Pike,Bldg 4,Room 138, Bethesda, MD 20892 USA

[15] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[16] Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

[17] Univ Massachusetts, Sch Med, Program Mol Med, Worcester, MA USA

来源：

BLOOD | 2018年 / 132卷 / 06期

基金：

美国国家卫生研究院;

关键词：

RABENOSYN-5; MUTATION; NEUTROPENIA;

D O I：

10.1182/blood-2017-12-824433

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：658 / 662

页数：5

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