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- Title
Rare NF1 microdeletion syndrome in an Omani patient.
- Authors
Al‐Araimi, Musallam; Hamza, Nishath; Al Yahmadi, Ali; Al Mazrooey, Hiba; Elsheikh, Afaf; Al Amri, Amira; Al Harrasi, Salma; Hausdorf, Lena; Mula‐Abed, Waad‐Allah
- Abstract
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. 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.
- Subjects
SHORT stature; COMPARATIVE genomic hybridization; SYNDROMES
- Publication
Clinical Case Reports, 2018, Vol 6, Issue 12, p2424
- ISSN
2050-0904
- Publication type
Article
- DOI
10.1002/ccr3.1881