Associated Papers
Clinical spectrum of male patients with OFD1 mutations.
Sakakibara N et al.
Journal of Human Genetics, 2019
Diagnosis of Joubert Syndrome 10 in a Fetus with Suspected Dandy-Walker Variant by WES: A Novel Splicing Mutation in OFD1.
Linpeng S et al.
Biomed Research International, 2018
Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review.
Zhang K et al.
Clinical Dysmorphology, 2017
[Clinical and genetic analysis of a family with Joubert syndrome type 10 caused by OFD1 gene mutation].
Meng C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2017
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