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
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author 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
author_facet 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
author_sort Al‐Araimi, Musallam
collection PubMed
description 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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spelling pubmed-62931512018-12-18 Rare NF1 microdeletion syndrome in an Omani patient 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 Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-10-26 /pmc/articles/PMC6293151/ /pubmed/30564341 http://dx.doi.org/10.1002/ccr3.1881 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes.
spellingShingle Case Reports
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
Rare NF1 microdeletion syndrome in an Omani patient
title Rare NF1 microdeletion syndrome in an Omani patient
title_full Rare NF1 microdeletion syndrome in an Omani patient
title_fullStr Rare NF1 microdeletion syndrome in an Omani patient
title_full_unstemmed Rare NF1 microdeletion syndrome in an Omani patient
title_short Rare NF1 microdeletion syndrome in an Omani patient
title_sort rare nf1 microdeletion syndrome in an omani patient
topic Case Reports
url 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
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