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）

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摘要

Key Clinical MessageNeurofibromatosis‐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.

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

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