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Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome...

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2313380161

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

About this item

Full title

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

Publisher

England: BMJ Publishing Group Ltd

Journal title

Journal of medical genetics, 2020-06, Vol.57 (6), p.427-433

Language

English

Formats

Publication information

Publisher

England: BMJ Publishing Group Ltd

More information

Scope and Contents

Contents

Background. The phenotypes of patients with the recently discovered, dominant, ETV6-linked leukaemia predisposition and familial thrombocytopenia syndrome are variable, and the exact mechanism of leukaemogenesis remains unclear. Patients and Methods. Here, we present novel clinical and laboratory phenotypes of seven individuals from three families...

Alternative Titles

Full title

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_2313380161

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2313380161

Other Identifiers

ISSN

0022-2593,1468-6244

E-ISSN

1468-6244

DOI

10.1136/jmedgenet-2019-106339

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