Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.

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Title: Biallelic SLC13A1 loss-of-function variants result in impaired sulfate transport and skeletal phenotypes, including short stature, scoliosis, and skeletal dysplasia.
Authors: Tise CG; Division of Medical Genetics, Department of Pediatrics, Lucile Packard Children's Hospital and Stanford University, Stanford, CA., Ashton K; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., de Hayr L; School of Health, University of the Sunshine Coast, Maroochydore, Queensland, Australia.; National PTSD Research Centre, Thompson Institute, University of the Sunshine Coast, Birtinya, QLD, Australia., Lee KD; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia., Patkar OL; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia., Krzesinski E; Monash Genetics, Monash Medical Centre, Melbourne, VIC, Australia.; Department of Paediatrics, Monash University, Clayton, VIC, Australia., Bassetti JA; Division of Medical Genetics, Department of Pediatrics, Weill Cornell Medicine, New York, NY., Carter EM; Hospital for Special Surgery, New York, NY., Raggio C; Hospital for Special Surgery, New York, NY., Zankl A; Department of Clinical Genetics, The Children's Hospital at Westmead, Westmead, New South Wales, Australia.; Faculty of Medicine and Health, The University of Sydney, Camperdown, New South Wales, Australia.; Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia., Khanshour AM; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX., Atala KN; Center for Translational Research, Scottish Rite for Children, Dallas, TX., Rios JJ; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; McDermott Center for Human Growth and Development and the Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX., Wise CA; Center for Translational Research, Scottish Rite for Children, Dallas, TX.; McDermott Center for Human Growth and Development and the Departments of Orthopaedic Surgery and Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX., Zhu Y; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., Zhang F; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., Roscioli T; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia.; Neuroscience Research Australia (NeuRA), Prince of Wales Clinical School, University of New South Wales, Sydney, Australia., Buckley M; New South Wales Health Pathology, Randwick Genomics, Prince of Wales Hospital, New South Wales, Australia., Harvey RJ; School of Health, University of the Sunshine Coast, Maroochydore, Queensland, Australia.; National PTSD Research Centre, Thompson Institute, University of the Sunshine Coast, Birtinya, QLD, Australia., Dawson PA; Mater Research Institute, University of Queensland, Brisbane, QLD, Australia.
Source: Genetics in medicine open [Genet Med Open] 2024 Dec 26; Vol. 3, pp. 101958. Date of Electronic Publication: 2024 Dec 26 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 9918734281906676 Publication Model: eCollection Cited Medium: Internet ISSN: 2949-7744 (Electronic) Linking ISSN: 29497744 NLM ISO Abbreviation: Genet Med Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2949-7744
DOI:10.1016/j.gimo.2024.101958