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Rare NF1 microdeletion syndrome in an Omani patient.

ABSTRACT: 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.

SUBMITTER: Al-Araimi M

PROVIDER: S-EPMC6293151 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature

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Rare NF1 microdeletion syndrome in an Omani patient.

Al-Araimi Musallam M Hamza Nishath N Al Yahmadi Ali A Al Mazrooey Hiba H Elsheikh Afaf A Al Amri Amira A Al Harrasi Salma S Hausdorf Lena L Mula-Abed Waad-Allah WA

Clinical case reports 20181026 12

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. ...[more]

PMID: 30564341