Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia

Austin L. Gray; Yan Liu; Edina A. Wappler-Guzzetta; Durga Cherukuri; Jun Wang; Akshat Jain

doi:10.1097/MPH.0000000000002681

Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia

Austin L. Gray, Yan Liu, Edina A. Wappler-Guzzetta, Durga Cherukuri, Jun Wang, Akshat Jain

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	E609-E612
Journal	Journal of Pediatric Hematology/Oncology
Volume	45
Issue number	5
DOIs	https://doi.org/10.1097/MPH.0000000000002681
State	Published - Jul 1 2023

ASJC Scopus Subject Areas

Pediatrics, Perinatology, and Child Health
Hematology
Oncology

Keywords

DDX41
JAK2
inversion 7q
myeloid neoplasm
pediatric essential thrombocythemia
Germ Cells/pathology
Humans
Myeloproliferative Disorders/genetics
DEAD-box RNA Helicases/genetics
Thrombocythemia, Essential/complications
Janus Kinase 2/genetics
Leukemia, Myeloid, Acute/pathology
Germ-Line Mutation
Child

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Gray, A. L., Liu, Y., Wappler-Guzzetta, E. A., Cherukuri, D., Wang, J., & Jain, A. (2023). Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia. Journal of Pediatric Hematology/Oncology, 45(5), E609-E612. https://doi.org/10.1097/MPH.0000000000002681

Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia. / Gray, Austin L.; Liu, Yan; Wappler-Guzzetta, Edina A. et al.
In: Journal of Pediatric Hematology/Oncology, Vol. 45, No. 5, 01.07.2023, p. E609-E612.

Research output: Contribution to journal › Article › peer-review

Gray, AL, Liu, Y, Wappler-Guzzetta, EA, Cherukuri, D, Wang, J & Jain, A 2023, 'Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia', Journal of Pediatric Hematology/Oncology, vol. 45, no. 5, pp. E609-E612. https://doi.org/10.1097/MPH.0000000000002681

Gray AL, Liu Y, Wappler-Guzzetta EA, Cherukuri D, Wang J , Jain A. Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia. Journal of Pediatric Hematology/Oncology. 2023 Jul 1;45(5):E609-E612. doi: 10.1097/MPH.0000000000002681

Gray, Austin L. ; Liu, Yan ; Wappler-Guzzetta, Edina A. et al. / Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia. In: Journal of Pediatric Hematology/Oncology. 2023 ; Vol. 45, No. 5. pp. E609-E612.

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Case Report of a Myeloid Neoplasm with Pathogenic Germline Variant in DDX41 and Constitutional inv(7)(q11.2q22) Along with JAK2 Pathogenic Variant in a 9-Year-old Patient Who Presented with Features of Essential Thrombocythemia

ASJC Scopus Subject Areas

Keywords

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