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

Abstract 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 o...

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Autores principales:	Mostafa Neissi, Hadideh Mabudi, Javad Mohammadi‐Asl
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	AHI1 gene Joubert syndrome mutation Medicine R Medicine (General) R5-920
Acceso en línea:	https://doaj.org/article/20e8674bfaf2470dad3a62b2c1b596a3
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spelling	oai:doaj.org-article:20e8674bfaf2470dad3a62b2c1b596a32021-12-02T07:55:57ZAHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report2050-090410.1002/ccr3.5002https://doaj.org/article/20e8674bfaf2470dad3a62b2c1b596a32021-10-01T00:00:00Zhttps://doi.org/10.1002/ccr3.5002https://doaj.org/toc/2050-0904Abstract 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.Mostafa NeissiHadideh MabudiJavad Mohammadi‐AslWileyarticleAHI1 geneJoubert syndromemutationMedicineRMedicine (General)R5-920ENClinical Case Reports, Vol 9, Iss 10, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	AHI1 gene Joubert syndrome mutation Medicine R Medicine (General) R5-920
spellingShingle	AHI1 gene Joubert syndrome mutation Medicine R Medicine (General) R5-920 Mostafa Neissi Hadideh Mabudi Javad Mohammadi‐Asl AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report
description	Abstract 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.
format	article
author	Mostafa Neissi Hadideh Mabudi Javad Mohammadi‐Asl
author_facet	Mostafa Neissi Hadideh Mabudi Javad Mohammadi‐Asl
author_sort	Mostafa Neissi
title	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_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_sort	ahi1 gene mutation in a consanguineous iranian family affected by joubert syndrome: a case report
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/20e8674bfaf2470dad3a62b2c1b596a3
work_keys_str_mv	AT mostafaneissi ahi1genemutationinaconsanguineousiranianfamilyaffectedbyjoubertsyndromeacasereport AT hadidehmabudi ahi1genemutationinaconsanguineousiranianfamilyaffectedbyjoubertsyndromeacasereport AT javadmohammadiasl ahi1genemutationinaconsanguineousiranianfamilyaffectedbyjoubertsyndromeacasereport
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AHI1 gene mutation in a consanguineous Iranian family affected by Joubert syndrome: A case report

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