Clinical, molecular, and pathological findings in a Neu-Laxova syndrome stillborn: A Brazilian case report.
Am J Med Genet A. 2020 Jun;182(6):1473-1476. doi:10.1002/ajmg.a.61559. Epub 2020 Mar 20
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摘要
Neu-Laxova syndrome (NLS) is a lethal genetic multiple congenital anomaly syndrome of unknown prevalence representing the severe spectrum of serine biosynthesis defects associated with PHGDH, PSAT1, or PSP gene mutations. The purpose of this study was to describe clinical/molecular and pathologic features of a NLS case caused by novel heterozygous missense variant in PHGDH gene identified in his consanguineous parents.
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基因功能
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原始数据
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文献解读
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