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<i>AHDC1</i> missense mutations in Xia-Gibbs syndrome.

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第一作者: Michael M,Khayat
第一单位: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;These authors contributed equally to this work.
作者单位: Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;These authors contributed equally to this work. [1] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.;These authors contributed equally to this work. [2] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. [3] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. [4] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Medical Scientist Training Program, Baylor College of Medicine, Houston, TX, USA. [5] UCSD Departments of Neuroscience and Pediatrics, Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA. [6] Department of Pediatrics and Genetics, Children's Mercy Hospitals, Kansas City, MO, USA. [7] Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. [8] All Wales Medical Genomics Service, NHS Wales Cardiff and Vale University Health Board, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK. [9] Departments of Human Genetics, Pediatrics, and Internal Medicine, University of Michigan, Ann Arbor, MI, USA. [10] Department of Pediatrics, University of Michigan, Ann Arbor, MI, USA. [11] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. [12] GeneDx, Gaithersburg, MD, USA. [13] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Texas Children's Neurological Research Institute, Houston, TX, USA. [14] Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Texas Children's Hospital, Houston, TX, USA.;Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. [15]
DOI 10.1016/j.xhgg.2021.100049
PMID 34950897
发布时间 2024-02-22
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