Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion
Blood Adv
.
2024 Apr 25:bloodadvances.2023012331.
doi: 10.1182/bloodadvances.2023012331.
Online ahead of print.
Authors
Parvathy Venugopal
1
,
Peer Arts
1
,
Lucy Claire Fox
2
,
Annet Simons
3
,
Devendra K Hiwase
4
,
Peter G Bardy
4
,
Annette Narcis
4
,
David M Ross
5
,
Lize F D van Vulpen
6
,
Arjan Buijs
6
,
Kelly L Bolton
7
,
Bartlomiej Getta
8
,
Eliska Furlong
9
,
Tina Carter A/Prof
8
,
Ingrid Krapels
10
,
Marlijn P A Hoeks
11
,
Adila Al Kindy
12
,
Farah Al Kindy
12
,
Sonja de Munnik
13
,
Pamela Evans
14
,
Mahalia S B Frank
15
,
Adam Bournazos
16
,
Sandra T Cooper
17
,
Thuong Thi Ha
18
,
Matilda R Jackson
19
,
Luis Alberto Arriola-Martinez
20
,
Kerry Phillips
21
,
Yvonne Brennan
22
,
Madhura Bakshi
23
,
Karen Ambler
24
,
Song Gao
24
,
Karin S Kassahn
24
,
Rosalie Kenyon
24
,
Kevin Hung MBBS FRACP FRCPA
21
,
Milena Babic
25
,
Alan McGovern
24
,
Lesley Rawlings
24
,
Cassandra Valkulin
24
,
Lucas Dejong
24
,
Rema Fathi
24
,
Simon McRae
26
,
Nicholas Myles
21
,
Dariusz Ladon
27
,
Marjolijn C Jongmans
2
,
Roland P Kuiper
28
,
Nicola Poplawski
21
,
Pasquale M Barbaro
29
,
Piers Blombery
2
,
Anna L Brown
24
,
Christopher N Hahn
24
,
Hamish S Scott
19
Affiliations
1
Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, Australia.
2
University of Melbourne, Australia.
3
Radboud University Medical Center, Nijmegen, Netherlands.
4
SAHMRI, Australia.
5
Flinders Medical Centre, Australia.
6
University Medical Center Utrecht, Utrecht, Netherlands.
7
Washington University, St Louis, Missouri, United States.
8
Perth Children's Hospital, Australia.
9
Perth Children's Hospital, Nedlands, Australia.
10
Maastricht University Medical Center, Maastricht, Netherlands.
11
Radboudumc, Nijmegen, Netherlands.
12
Sultan Qaboos University Hospital, Muscat, Oman.
13
Radboud university medical center, Nijmegen, Netherlands.
14
Children's Health at Crumlin, Dublin, Ireland.
15
South Australian Health and Medical Research Institute, Adeialde, Australia.
16
Kids Neuroscience Centre, Westmead, Australia.
17
The University of Sydney, The Children's Hospital at Westmead, The Children's Medical Research Institute, Westmead, Australia.
18
SA Pathology, Australia.
19
Centre for Cancer Biology, an Alliance between SA pathology and the University of South Australia, Adelaide, Australia.
20
Centre for Cancer Biology, Australia.
21
Royal Adelaide Hospital, Adelaide, Australia.
22
Royal Adelaide Hospital, South Australia, Australia.
23
Liverpool Hospital, Liverpool, Australia.
24
SA Pathology, Adelaide, Australia.
25
Centre for Cancer Biology (SA Pathology and University of South Australia), Adelaide, South Australia, Australia.
26
Western Haematology and Oncology, Australia.
27
Queensland Children's Hospital, Australia.
28
Princes Máxima Center for Pediatric Oncology, Utrecht, Netherlands.
29
University of Adelaide, Australia.
PMID:
38662475
DOI:
10.1182/bloodadvances.2023012331
No abstract available