1.
Clin Case Rep
; 8(4): 716-718, 2020 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32274043
RESUMO
This is a first case report of a patient with hypohidrotic ectodermal dysplasia from Oman, who was found to carry a mutation in the EDAR gene after candidate gene selection based on regions of homozygosity in his genome.
2.
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.