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Article

Whole exome sequencing detects CHST3 mutation in patient with acute promyelocytic leukemia: A case report.

Medicine - 1 Sept 2018

Feng Lili, Li Ying, Li Ying, Jiang Yujie, Wang Na, Yuan Dai, Fan Juan

Abstract excerpt

RATIONALE: Acute promyelocytic leukemia (APL) is a kind of acute myeloid leukemia, which was characterized by the presence of PML/RARα fusion gene. Mutations in CHST3 have been previously reported to be associated with a rare phenotype of skeleton dysplasia, known as Spondyloepiphyseal dysplasia. Here we reported 1 patient with APL with CHST3 mutations. PATIENT CONCERNS: An 18-year-old girl was referred to the...

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Identifiers

PMID: 30200136
DOI: 10.1097/MD.0000000000012214
PMCID: PMC6133617

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