Report of two cases of Schaaf-Yang syndrome: Same genotype and different phenotype.

Ana Maria Rodriguez,Katherine Schain,Parul Jayakar,Meredith S Wright,Shimul Chowdhury,Daria Salyakina

Clinical case reports（2023）

引用 0|浏览1

暂无评分

摘要

We report two, genotypically identical but phenotypically distinct cases of Schaaf-Yang syndrome and propose the early use of Genome Sequencing in patients with nonspecific presentations to facilitate the early diagnosis of children with rare genetic diseases and improve overall health care outcomes.

查看译文

关键词

ICU, MAGEL2, phenotype-genotype association, rapid whole genome sequencing

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