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Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.

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Title: Uncovering Phenotypic Expansion in AXIN2-Related Disorders through Precision Animal Modeling.
Authors: Aceves-Ewing NM; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA., Lanza DG; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA., Marcogliese PC; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada; Children's Hospital Research Institute of Manitoba (CHRIM), Winnipeg, MB, Canada., Lu D; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA., Hsu CW; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA; Optical Imaging and Vital Microscopy Core, Baylor College of Medicine, Houston, TX, USA., Hashimoto H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA., Gonzalez M; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA., Christiansen AE; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA., Rasmussen TL; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA., Ho AJ; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA; Advanced Technology Core for Macromolecular X-ray Crystallography, Baylor College of Medicine, Houston, TX, USA., Gaspero A; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA., Sha C; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA., Dickinson ME; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, USA., Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Shayota BJ; Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, UT, USA., Pachter S; Atlantic Health System, Summit, NJ USA., Hu X; GeneDx, LLC, Gaithersburg MD, USA., Day-Salvatore DL; Department of Medical Genetics and Genomic Medicine, Saint Peter's University Hospital, New Brunswick, NJ, USA., Mackay L; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., Kanca O; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA., Chao HT; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; The Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Blieden L; Texas Children's Hospital, Houston, TX, USA; Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA., Wasserman BN; Wills Eye Hospital, Department of Pediatric Ophthalmology and Strabismus, Sydney Kimmel College of Medicine, Thomas Jefferson University, Philadelphia, PA, USA., Bax DA; Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK., Ragge NK; Faculty of Health, Science and Technology, Oxford Brookes University, Oxford, UK; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, UK., Lee S; Verna and Marrs McLean Department of Biochemistry and Molecular Pharmacology, Baylor College of Medicine, Houston, TX, USA; Advanced Technology Core for Macromolecular X-ray Crystallography, Baylor College of Medicine, Houston, TX, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address: burrage@bcm.edu., Heaney JD; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, TX, USA. Electronic address: heaney@bcm.edu.
Corporate Authors: Undiagnosed Diseases Network, Baylor College of Medicine Center for Precision Medicine Models
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2026 Jul 09, pp. 102648. Date of Electronic Publication: 2026 Jul 09.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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