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.

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Case Rep
Main 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
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Case Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6293151/
https://ncbi.nlm.nih.gov/pubmed/30564341
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ccr3.1881
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados