A novel WDR60 mutation contributes to a delayed diagnosis of Jeune asphyxiating thoracic dystrophy in a chinese patient: A case report

Authors :: Xiangzhong Zhao
Aihua Sui
Li Cui
Zhiying Liu
Ruixiao Zhang
Yue Han
leping shao
Publication Year :: 2022
Publisher :: Authorea, Inc., 2022.
Abstract: We reported a delayed diagnosised Chinese JATD case with mild skeletal phenotype, and presented with renal insufficiency as the initial symptom of disease onset. Novel bilateral c.2789C>T (p.S930L) mutations in WDR60 gene were identified. Our report will help to improve our awareness and diagnosibility for this disease in China.

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