Rare Nf1 Microdeletion Syndrome In An Omani Patient

Musallam Al-Araimi,Nishath Hamza, Ali Al Yahmadi,Hiba Al Mazrooey,Afaf Elsheikh, Amira Al Amri,Salma Al Harrasi, Lena Hausdorf,Waad-Allah Mula-Abed

CLINICAL CASE REPORTS（2018）

引用 1|浏览3

暂无评分

摘要

Key Clinical Message Neurofibromatosis-1 phenotype combined with webbed neck and short stature in a young Omani patient was revealed to be due to a de novo germ-line heterozygous 1.7 Mb microdeletion at 17q11.2. This lead to the diagnosis of NF1 microdeletion syndrome.

查看译文

关键词

comparative genomic hybridization, microdeletion, neurofibromatosis type 1, noonan syndrome

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