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Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.

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Title: Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.
Authors: Gillesse E; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Wade A; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Canada., Parboosingh JS; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Au PYB; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada., Bernier FP; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada., Lamont RE; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada., Innes AM; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.
Corporate Authors: C4R Consortium; Children's Hospital of Eastern Ontario Research Institute, Ottawa, Canada.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63789. Date of Electronic Publication: 2024 Jun 25.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.
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  Data: <searchLink fieldCode="AU" term="%22Gillesse+E%22">Gillesse E</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Wade+A%22">Wade A</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.; Department of Cell Biology and Anatomy, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Parboosingh+JS%22">Parboosingh JS</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Au+PYB%22">Au PYB</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Bernier+FP%22">Bernier FP</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Lamont+RE%22">Lamont RE</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Innes+AM%22">Innes AM</searchLink>; Alberta Children's Hospital Research Institute, Calgary, Canada.; Department of Medical Genetics, University of Calgary, Calgary, Canada.; Department of Pediatrics, University of Calgary, Calgary, Canada.
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      – TitleFull: Genome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.
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              Text: 2024 Nov
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