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C-terminal frameshift variants in GPKOW are associated with a multisystemic X-linked disorder.

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第一作者: Jung-Wan,Mok
第一单位: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX.
作者单位: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX. [1] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Genetics Department, Texas Children's Hospital, Houston, TX. [2] Baylor Scott and White Medical Center, Temple, TX. [3] Adelaide Medical School and the Robinson Research Institute, University of Adelaide, Adelaide, Australia. [4] Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France; L'institut du thorax, INSERM, CNRS, Nantes Université, Nantes, France. [5] Reference Center for Skeletal Dysplasia, Necker-Enfants Malades Hospital, AP-HP, Paris, France. [6] UF of Fœtopathology and Genetics, CHU Nantes, Nantes, France; Department of Anatomical Pathology, CHU Nantes, Nantes, France. [7] Service de Génétique Médicale, CHU Nantes, Nantes Université, Nantes, France. [8] Rice University, Houston, TX. [9] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX. [10] Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX. [11] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX; Department of Neuroscience, Baylor College of Medicine, Houston, TX. Electronic address: yamamoto@bcm.edu. [12] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Genetics Department, Texas Children's Hospital, Houston, TX. Electronic address: machol@bcm.edu. [13]
DOI 10.1016/j.gim.2025.101429
PMID 40221893
发布时间 2025-09-16
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Genetics in medicine : official journal of the American College of Medical Genetics

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