A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report

We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for this dis...

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Detalles Bibliográficos
Autores principales: Zhao, Xiangzhong, Sui, Aihua, Cui, Li, Liu, Zhiying, Zhang, Ruixiao, Han, Yue, Shao, Leping
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/PMC9653168/
https://www.ncbi.nlm.nih.gov/pubmed/36381051
http://dx.doi.org/10.1002/ccr3.6561
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author Zhao, Xiangzhong
Sui, Aihua
Cui, Li
Liu, Zhiying
Zhang, Ruixiao
Han, Yue
Shao, Leping
author_facet Zhao, Xiangzhong
Sui, Aihua
Cui, Li
Liu, Zhiying
Zhang, Ruixiao
Han, Yue
Shao, Leping
author_sort Zhao, Xiangzhong
collection PubMed
description We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for this disease.
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spelling pubmed-96531682022-11-14 A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report Zhao, Xiangzhong Sui, Aihua Cui, Li Liu, Zhiying Zhang, Ruixiao Han, Yue Shao, Leping Clin Case Rep Case Report We report a Chinese patient with JATD presenting a mild skeletal phenotype and with renal insufficiency as the initial symptom of the disease. A novel homozygous c.2789C>T (p.S930L) variant in the WDR60 gene was identified. Our report will help to improve awareness and diagnosability for this disease. John Wiley and Sons Inc. 2022-11-12 /pmc/articles/PMC9653168/ /pubmed/36381051 http://dx.doi.org/10.1002/ccr3.6561 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ (https://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Report
Zhao, Xiangzhong
Sui, Aihua
Cui, Li
Liu, Zhiying
Zhang, Ruixiao
Han, Yue
Shao, Leping
A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report
title A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report
title_full A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report
title_fullStr A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report
title_full_unstemmed A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report
title_short A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report
title_sort novel wdr60 variant contributes to a late diagnosis of jeune asphyxiating thoracic dystrophy in a chinese patient: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9653168/
https://www.ncbi.nlm.nih.gov/pubmed/36381051
http://dx.doi.org/10.1002/ccr3.6561
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