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

ABSTRACT: 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.

SUBMITTER: Zhao X 

PROVIDER: S-EPMC9653168 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature