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[A novel compound heterozygous mutation in MYSM1 gene in a 1-month-old girl: a bone marrow failure syndrome 4 family survey and literature review].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi - 14 Feb 2021

Huang J, Zhan X Y, Zhao A L, Wu B, Yang Y, Tan P, Wan L J, Lu Y H

Abstract excerpt

Objective: To report the clinical manifestations and total exon detection results of one case of MYSM1 gene complex heterozygosity mutation of bone marrow failure syndrome 4 and the results of total exon detection of her family to provide a case phenotype for the early diagnosis of bone marrow failure syndrome 4. Methods: A 1-month-old girl with severe anemia was sequenced with trio-WES. Similarly, the family was...

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Identifiers

PMID: 33858043
DOI: 10.3760/cma.j.issn.0253-2727.2021.02.007
PMCID: PMC8071664

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