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. |
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| 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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