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Cancer and blood disorders

Cancer and blood disorders

“Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation”

American Journal of Medical Genetics, 2016. doi: 10.1002/ajmg.a.37995.
R. Kosaki et al.

“Acute myeloid leukaemia in a case with Tatton-Brown-Rahman syndrome: the peculiar DNMT3A R882 mutation”

Journal of Medical Genetics, 54:805–808, 2017.
I.H.I.M. Hollink et al.

“The spectrum of DNMT3A variants in Tatton–Brown–Rahman syndrome overlaps with that in hematologic malignancies”

American Journal of Medical Genetics, 2017. doi: 10.1002/ajmg.a.38485.
W. Shen et al.

“The first case report of medulloblastoma associated with Tatton‐Brown–Rahman syndrome”

American Journal of Medical Genetics, 2019. doi: 10.1002/ajmg.a.61180.
K.J. Sweeney et al.

“Remethylation of Dnmt3a−/− hematopoietic cells is associated with partial correction of gene dysregulation and reduced myeloid skewing”

PNAS, 117(6):3123–3134, 2020. doi: 10.1073/pnas.1918611117.
S. Ketkar et al.

“Tissue-biased expansion of DNMT3A-mutant clones in a mosaic individual is associated with conserved epigenetic erosion”

Cell Stem Cell, 27:326–335.e4, 2020.
A. Tovy et al.

“Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome”

Haematologica, 2021. doi: 10.3324/haematol.2021.278990.
A. Tovy et al.

“DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults”

Blood, 139(3):461–464, 2022. doi: 10.1182/blood.2021014052.
M.A. Ferris et al.

“Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome”

Journal of Medical Genetics, 61(9):870–877, 2024. doi: 10.1136/jmg-2024-109861.
V. Totten et al.

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Clinical findings

diagnostic features, case studies, cardiac findings, stature

Neuropsychiatric and behavioral

intellectual disability, autism, memory formation

Genetics and epigenetics

DNA methylation, animal models, gene regulation
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