AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report

This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental...

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Autores principales: Neissi, Mostafa, Mabudi, Hadideh, Mohammadi‐Asl, Javad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8538011/
https://www.ncbi.nlm.nih.gov/pubmed/34721863
http://dx.doi.org/10.1002/ccr3.5002
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author Neissi, Mostafa
Mabudi, Hadideh
Mohammadi‐Asl, Javad
author_facet Neissi, Mostafa
Mabudi, Hadideh
Mohammadi‐Asl, Javad
author_sort Neissi, Mostafa
collection PubMed
description This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental and physical abnormalities.
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spelling pubmed-85380112021-10-29 AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report Neissi, Mostafa Mabudi, Hadideh Mohammadi‐Asl, Javad Clin Case Rep Case Report This point of detected mutation could be considered as a novel mutational hotspot point that carried in patient ancestors. Moreover, the obtained results and family history suggest a precise genetic consulting and molecular prenatal evaluation for suspect individuals with a family history of mental and physical abnormalities. John Wiley and Sons Inc. 2021-10-23 /pmc/articles/PMC8538011/ /pubmed/34721863 http://dx.doi.org/10.1002/ccr3.5002 Text en © 2021 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Neissi, Mostafa
Mabudi, Hadideh
Mohammadi‐Asl, Javad
AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
title AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
title_full AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
title_fullStr AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
title_full_unstemmed AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
title_short AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
title_sort ahi1 gene mutation in a consanguineous iranian family affected by joubert syndrome: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8538011/
https://www.ncbi.nlm.nih.gov/pubmed/34721863
http://dx.doi.org/10.1002/ccr3.5002
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AT mohammadiasljavad ahi1genemutationinaconsanguineousiranianfamilyaffectedbyjoubertsyndromeacasereport

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