Associated Papers
Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome.
Yu QX et al.
Prenatal Diagnosis, 2024
Chromosome Microarray Analysis and Exome Sequencing: Implementation in Prenatal Diagnosis of Fetuses with Digestive System Malformations.
Wang Y et al.
Genes, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z et al.
Plos Genetics, 2023
IFT74 variants cause skeletal ciliopathy and motile cilia defects in mice and humans.
Bakey Z et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Loss of Ift74 Leads to Slow Photoreceptor Degeneration and Ciliogenesis Defects in Zebrafish.
Zhu P et al.
International Journal of Molecular Sciences, 2021
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Luo M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.
Zhongling K et al.
Frontiers in Genetics, 2021
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