Expanding the phenotype of the truncating eIF2 pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrom
Authorea (Authorea)(2021)
摘要
We describe two brothers with a truncating variant in EIF2S3 and expand
the phenotypic description of MEHMO. Our cases had the previously
described facial dysmorphic features, severe microcephaly,
hypoglycaemia, hypothyreosis, epilepsy, hypertonus, obesity, micropenis
and death due to multiorgan failure. Additionally, we describe
hypothermia and reduced umbilical blood flow.
更多查看译文
关键词
phenotype
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要