Rare NF1 microdeletion syndrome in an Omani patient

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.

Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6293151/
https://www.ncbi.nlm.nih.gov/pubmed/30564341
http://dx.doi.org/10.1002/ccr3.1881
Descripción
Sumario: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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