Associated Papers
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
Impaired cooperation between IFT74/BBS22-IFT81 and IFT25-IFT27/BBS19 causes Bardet-Biedl syndrome.
Zhou Z et al.
Human Molecular Genetics, 2022
High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.
Hammarsjö A et al.
Journal of Human Genetics, 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
Second case of Bardet-Biedl syndrome caused by biallelic variants in IFT74.
Kleinendorst L et al.
European Journal of Human Genetics : Ejhg, 2020
Identifying underlying medical causes of pediatric obesity: Results of a systematic diagnostic approach in a pediatric obesity center.
Kleinendorst L et al.
Plos One, 2020
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