Katta Mohan Girisha and colleagues conduct a whole exome sequencing on a child with a clinical phenotype of the child shows significant overlap with cranioectodermal dysplasia type I (Sensenbrenner syndrome). They identified a homozygous nonsense variant p.R142* in IFT52 encoding an IFT-B core complex protein as the likely cause of the children’s condition. This is the first report of a human disease associated with IFT52.
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Girisha, Katta Mohan et al. Clinical Genetics.
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AMMAR HUSAMI
Cincinnati Children's Hospital Medical Center