Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings

Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: NM_005687.4:c.853G &...

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Autores principales: Karimzadeh, Parvaneh, Rezakhani, Sepideh, Miryounesi, Mohammad, Alijanpour, Sahar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347330/
https://www.ncbi.nlm.nih.gov/pubmed/35937029
http://dx.doi.org/10.1002/ccr3.6195
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author Karimzadeh, Parvaneh
Rezakhani, Sepideh
Miryounesi, Mohammad
Alijanpour, Sahar
author_facet Karimzadeh, Parvaneh
Rezakhani, Sepideh
Miryounesi, Mohammad
Alijanpour, Sahar
author_sort Karimzadeh, Parvaneh
collection PubMed
description Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant.
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spelling pubmed-93473302022-08-05 Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings Karimzadeh, Parvaneh Rezakhani, Sepideh Miryounesi, Mohammad Alijanpour, Sahar Clin Case Rep Case Report Pathogenic mutations in the FARSB gene are associated with neurodevelopmental disorder involving the brain, liver, and lungs. We report genetic analysis of a family including two affected members with this disorder, which revealed a homozygous pathogenic missense variant, FARSB: NM_005687.4:c.853G > A:p.E285K in both affected patients. The parents were heterozygous for this variant. John Wiley and Sons Inc. 2022-08-03 /pmc/articles/PMC9347330/ /pubmed/35937029 http://dx.doi.org/10.1002/ccr3.6195 Text en © 2022 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
Karimzadeh, Parvaneh
Rezakhani, Sepideh
Miryounesi, Mohammad
Alijanpour, Sahar
Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
title Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
title_full Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
title_fullStr Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
title_full_unstemmed Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
title_short Neurodegenerative disorder and diffuse brain calcifications due to FARSB mutation in two siblings
title_sort neurodegenerative disorder and diffuse brain calcifications due to farsb mutation in two siblings
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9347330/
https://www.ncbi.nlm.nih.gov/pubmed/35937029
http://dx.doi.org/10.1002/ccr3.6195
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