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Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.

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第一作者: Kelsey,Robinson
第一单位: Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.
作者单位: Department of Human Genetics, Emory University, Atlanta, GA 30322, USA. [1] Department of Oral Health Sciences, University of Washington, Seattle, WA 98195, USA; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA. [2] Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA. [3] Department of Biology, Emory University, Atlanta, GA 30322, USA. [4] Department of Oral Health Sciences, University of Washington, Seattle, WA 98195, USA. [5] Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria. [6] Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21218, USA. [7] Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA 52242, USA. [8] Dental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, PR 00925, USA. [9] Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. [10] Ambry Genetics, Aliso Viejo, CA 92656, USA. [11] Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana. [12] Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX 77030, USA. [13] Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA 52242, USA. [14] Department of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA. [15] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. [16] Department of Pediatrics, Stanford University, Stanford, CA 94305, USA. [17] Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada. [18] Center for Craniofacial and Dental Genetics, Department of Oral and Craniofacial Sciences, School of Dental Medicine, and Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15260, USA. [19] Center for Craniofacial Innovation, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA. [20] Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA. [21] Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA. [22] Department of Human Genetics, Emory University, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu. [23]
DOI 10.1016/j.ajhg.2025.08.008
PMID 40902599
发布时间 2025-10-10
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American journal of human genetics

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