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

Internet

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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