A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report.
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ABSTRACT:
SUBMITTER: Zhao X
PROVIDER: S-EPMC9653168 | biostudies-literature | 2022 Nov
REPOSITORIES: biostudies-literature
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A novel WDR60 variant contributes to a late diagnosis of Jeune asphyxiating thoracic dystrophy in a Chinese patient: A case report.
Zhao Xiangzhong X Sui Aihua A Cui Li L Liu Zhiying Z Zhang Ruixiao R Han Yue Y Shao Leping L
Clinical case reports 20221112 11
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 <i>WDR60</i> gene was identified. Our report will help to improve awareness and diagnosability for this disease. ...[more]
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