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.
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Al-Araimi, M., Hamza, N., Al Yahmadi, A., Al Mazrooey, H., Elsheikh, A., Al Amri, A., … Mula-Abed, W. A. (2018). Rare NF1 microdeletion syndrome in an Omani patient. Clinical Case Reports, 6(12), 2424–2426. https://doi.org/10.1002/ccr3.1881
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