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Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion

Choi WK, Lim SE, Kim GH, Lee BH, Seol CA, Seo EJ

We report a case of Beckwith-Wiedemann syndrome (BWS) and Jacobsen syndrome (JBS) due to 11pter trisomy and 11qter monosomy caused by paternal inv(11)(p15.1q24.2). The patient was born premature and had...
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First Case of Double T-Cell Receptor Alpha/Delta Rearrangements of t(11;14) and inv(14) and Subsequent JAK2 Rearrangement in a Patient With T-cell Acute Lymphoblastic Leukemia

Seol CA, Cho YU, Jang S, Park CJ, Lee JH, Seo EJ

No abstract available.
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POEMS Syndrome: Bone Marrow, Laboratory, and Clinical Findings in 24 Korean Patients

Shim H, Seol CA, Park CJ, Cho YU, Seo EJ, Lee JH, Yoon DH, Suh CW, Park SH, Jang S

POEMS syndrome is a rare paraneoplastic syndrome, which includes polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes due to plasma cell (PC) neoplasm. Diagnosis of this disease is challenging because of...
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Langer-Giedion Syndrome with 8q23.1–q24.13 Deletion by Complex Three-way Translocation

Min S, Seo EJ, Seol CA, Kim GH, Lee BH, Lee DH

Langer-Giedion syndrome is a very rare genetic disorder that is caused by the deletion on chromosome 8q24.1, encompassing the TRPS1 and EXT1 genes. We describe a 5-month-old female patient who...
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The First Case of Ganciclovir-Resistant Cytomegalovirus Colitis with a 597-600 Deletion in UL97 Gene after Stem Cell Transplantation in Korea

Seol CA, Ko YJ, Kim SH, Kim MN, Sung H, Lee JH

Human cytomegalovirus (CMV) infection has been a major concern in hematopoietic stem cell transplant recipients. Ganciclovir (GCV) resistance results mostly from mutations within the protein kinase UL97 gene. The three...
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The First Korean Case of Disseminated Mycetoma Caused by Nocardia pseudobrasiliensis in a Patient on Long-Term Corticosteroid Therapy for the Treatment of Microscopic Polyangiitis

Seol CA, Sung H, Kim DH, Ji M, Chong YP, Kim MN

Nocardia pseudobrasiliensis is predominantly associated with invasive infections in immunocompromised patients. We report a case of disseminated mycetoma caused by N. pseudobrasiliensis in a 57-yr-old woman with microscopic polyangiitis, who...
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