Associated Papers
Whole exome sequencing identifies a novel mutation in Annexin A4 that is associated with recurrent spontaneous abortion.
Ye Q et al.
Frontiers in Medicine, 2024
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa.
Kaukonen M et al.
Human Genetics, 2021
Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.
Takahara M et al.
Human Molecular Genetics, 2018
Whole exome sequencing revealed biallelic IFT122 mutations in a family with CED1 and recurrent pregnancy loss.
Tsurusaki Y et al.
Clinical Genetics, 2014
Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia.
Alazami AM et al.
Molecular Genetics & Genomic Medicine, 2014
Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene.
Walczak-Sztulpa J et al.
American Journal of Human Genetics, 2010
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