Identification of a novel variant in MECOM gene as cause of isolated bone marrow failure

被引：0
|
作者：
Ammeti, Daniele [1 ]
Bresolin, Silvia [2 ]
Gabelli, Maria [2 ]
Zanchetta, Melania Eva [1 ]
Tretti-Parenzan, Caterina [2 ]
Bottega, Roberta [1 ]
Capaci, Valeria [1 ]
Biffi, Alessandra [2 ]
Savoia, Anna [3 ]
Marzollo, Antonio [2 ]
Faleschini, Michela [1 ]
机构：
[1] IRCCS Burlo Garofolo, Inst Maternal & Child Hlth, Trieste, Italy
[2] Padua Univ & Hosp, Oncol & Stem Cell Transplant Div, Women & Child Hlth Dept, Paediat Haematol, Padua, Italy
[3] Univ Verona, Verona, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2024年 / 32卷
关键词：
D O I：
暂无
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
P08.024.D
引用
收藏
页码：449 / 449
页数：1
相关论文
共 50 条
  • [41] Lethal neonatal bone marrow failure syndrome with multiple congenital abnormalities, including limb defects, due to a constitutional deletion of 3′ MECOM
    van der Veken, Lars T.
    Maiburg, Merel C.
    Groenendaal, Floris
    van Gijn, Marielle E.
    Bloem, Andries C.
    Erpelinck, Claudia
    Groschel, Stefan
    Sanders, Mathijs A.
    Delwel, Ruud
    Bierings, Marc B.
    Buijs, Arjan
    HAEMATOLOGICA, 2018, 103 (04) : E173 - E176
  • [42] A novel desmin gene variant as an important cause of biventricular arrhythmogenic cardiomyopathy
    Protonotarios, A.
    Quinn, E.
    Dalageorgou, C.
    Futema, M.
    Akhtar, M. M.
    Asimaki, A.
    Ashworth, M.
    Savvatis, K.
    Syrris, P.
    Elliott, P. M.
    Lopes, L. R.
    EUROPEAN HEART JOURNAL, 2019, 40 : 2286 - 2286
  • [43] Early identification of radiation accident victims for therapy of bone marrow failure
    Dainiak, N
    Sorba, S
    STEM CELLS, 1997, 15 : 275 - 285
  • [44] De novo NUF2 variant in a novel inherited bone marrow failure syndrome including microcephaly and renal hypoplasia
    Vial, Yoann
    Lainey, Elodie
    Leblanc, Thierry
    Baudouin, Veronique
    Dourthe, Marie Emilie
    Gressens, Pierre
    Verloes, Alain
    Cave, Helene
    Drunat, Severine
    BRITISH JOURNAL OF HAEMATOLOGY, 2022, 199 (05) : 739 - 743
  • [45] A novel compound heterozygous mutation of MYSM1 gene in a patient with bone marrow failure syndrome 4
    Zhan, X.
    Zhao, A.
    Wu, B.
    Yang, Y.
    Wan, L.
    Tan, P.
    Huang, J.
    Lu, Y.
    BRITISH JOURNAL OF BIOMEDICAL SCIENCE, 2021, 78 (04) : 239 - 243
  • [46] IDENTIFICATION OF A NOVEL RISK VARIANT IN THE FUS GENE IN ESSENTIAL TREMOR
    Kuhlenbaeumer, Gregor
    NEUROLOGY, 2014, 82 (05) : 461 - 461
  • [47] Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis
    Barrell, William B.
    Al-Lami, Hadeel Adel
    Goos, Jacqueline A. C.
    Swagemakers, Sigrid M. A.
    van Dooren, Marieke
    Torban, Elena
    van der Spek, Peter J.
    Mathijssen, Irene M. J.
    Liu, Karen J.
    EUROPEAN JOURNAL OF HUMAN GENETICS, 2022, 30 (03) : 282 - 290
  • [48] Identification of a Novel Intronic Variant in the Complement Factor I Gene
    Nagy, Simon Peter
    Dobner, Sarolta
    Szabo, Lena
    Goschler, Adam
    Prohaszka, Zoltan
    Szilagyi, Agnes
    EUROPEAN JOURNAL OF IMMUNOLOGY, 2024, 54 : 195 - 195
  • [49] ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy
    Scott, Hamish S.
    Zerella, Jiarna
    Homan, Claire
    Lin, Steve
    Spinelli, Sam J.
    Babic, Milena
    Brautigan, Peter J.
    Truong, Lynda
    Arriola-Martinez, Luis
    Venugopal, Parvathy
    Feurstein, Simone K.
    Larcher, Lise
    De Fontbrune, Flore Sicre
    Demirdas, Serwet
    De Munnik, Sonja
    Poirel, Helene
    Brichard, Benedicte
    Dobbins, Sara
    Mutsaers, Pim
    DeMille, Desiree S.
    Flores-Daboub, Josue
    Drazer, Michael W.
    Crawford, Alison
    McCarrier, Julie
    Basel, Donald G.
    Phillips, Kerry
    Poplawski, Nicola K.
    Birdsey, Graeme
    Pirri, Daniela
    Ostergaard, Pia
    Simons, Annet
    Godley, Lucy
    Ross, David M.
    Hiwase, Devendra
    Soulier, Jean
    Brown, Anna
    Carmichael, Catherine
    Hahn, Christopher
    BLOOD, 2024, 144 : LBA8 - LBA8
  • [50] ERG Is a New Predisposition Gene for Bone Marrow Failure and Hematological Malignancy
    Scott, Hamish S.
    Zerella, Jiarna
    Homan, Claire
    Arts, Peer
    Lin, Steve
    Spinelli, Sam J.
    Babic, Milena
    Brautigan, Peter J.
    Truong, Lynda
    Arriola-Martinez, Luis
    Venugopal, Parvathy
    Feurstein, Simone K.
    Larcher, Lise
    De Fontbrune, Flore Sicre
    Demirdas, Serwet
    De Munnik, Sonja
    Poirel, Helene
    Brichard, Benedicte
    Dobbins, Sara
    Mutsaers, Pim
    DeMille, Desiree S.
    Flores-Daboub, Josue
    Drazer, Michael W.
    Crawford, Alison
    McCarrier, Julie
    Basel, Donald G.
    Phillips, Kerry
    Poplawski, Nicola K.
    Birdsey, Graeme
    Pirri, Daniela
    Ostergaard, Pia
    Simons, Annet
    Godley, Lucy
    Ross, David M.
    Hiwase, Devendra
    Soulier, Jean
    Brown, Anna
    Carmichael, Catherine
    Hahn, Christopher N.
    BLOOD, 2023, 142
12345