1.
Clin Case Rep
; 6(12): 2424-2426, 2018 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30564341
RESUMO
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.