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