Clinical, Molecular, And Pathological Findings In A Neu-Laxova Syndrome Stillborn: A Brazilian Case Report
AMERICAN JOURNAL OF MEDICAL GENETICS PART A(2020)
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.
更多查看译文
关键词
Neu-Laxova,PHGDH,PSAT1,PSP,serine
AI 理解论文
溯源树
样例
![](https://originalfileserver.aminer.cn/sys/aminer/pubs/mrt_preview.jpeg)
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要