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

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Title: Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
Authors: Robinson K; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Singh SK; 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., Walkup RB; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA., Fawwal DV; Department of Biology, Emory University, Atlanta, GA 30322, USA., Vilfort KM; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Koloskee A; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Fashina A; Department of Oral Health Sciences, University of Washington, Seattle, WA 98195, USA., Adeyemo WL; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria., Beaty TH; Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21218, USA., Butali A; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA 52242, USA., Buxó CJ; Dental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, PR 00925, USA., Chung WK; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Cutler DJ; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Epstein MP; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Gasser B; Ambry Genetics, Aliso Viejo, CA 92656, USA., Gowans LJJ; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana., Hecht JT; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX 77030, USA., Mankad A; Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA 52242, USA., Moreno Uribe L; Department of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA., Scott DA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Shaw GM; Department of Pediatrics, Stanford University, Stanford, CA 94305, USA., Thomas MA; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada., Weinberg SM; 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., Liao EC; Center for Craniofacial Innovation, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Brand H; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Marazita ML; 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., Lipinski RJ; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA., Murray JC; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA., Cornell RA; Department of Oral Health Sciences, University of Washington, Seattle, WA 98195, USA., Leslie-Clarkson EJ; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.
Source: American journal of human genetics [Am J Hum Genet] 2025 Oct 02; Vol. 112 (10), pp. 2422-2439. Date of Electronic Publication: 2025 Sep 02.
Publication Type: Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE
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  Data: Rare variants in PRKCI cause Van der Woude syndrome and other features of peridermopathy.
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  Data: <searchLink fieldCode="AU" term="%22Robinson+K%22">Robinson K</searchLink>; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Singh+SK%22">Singh SK</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Walkup+RB%22">Walkup RB</searchLink>; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.<br /><searchLink fieldCode="AU" term="%22Fawwal+DV%22">Fawwal DV</searchLink>; Department of Biology, Emory University, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Vilfort+KM%22">Vilfort KM</searchLink>; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Koloskee+A%22">Koloskee A</searchLink>; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Fashina+A%22">Fashina A</searchLink>; Department of Oral Health Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Adeyemo+WL%22">Adeyemo WL</searchLink>; Department of Oral and Maxillofacial Surgery, College of Medicine, University of Lagos, Lagos, Nigeria.<br /><searchLink fieldCode="AU" term="%22Beaty+TH%22">Beaty TH</searchLink>; Department of Epidemiology, Johns Hopkins University, Baltimore, MD 21218, USA.<br /><searchLink fieldCode="AU" term="%22Butali+A%22">Butali A</searchLink>; Department of Oral Biology, Radiology, and Medicine, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Buxó+CJ%22">Buxó CJ</searchLink>; Dental and Craniofacial Genomics Core, School of Dental Medicine, University of Puerto Rico, San Juan, PR 00925, USA.<br /><searchLink fieldCode="AU" term="%22Chung+WK%22">Chung WK</searchLink>; Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Cutler+DJ%22">Cutler DJ</searchLink>; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Epstein+MP%22">Epstein MP</searchLink>; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA.<br /><searchLink fieldCode="AU" term="%22Gasser+B%22">Gasser B</searchLink>; Ambry Genetics, Aliso Viejo, CA 92656, USA.<br /><searchLink fieldCode="AU" term="%22Gowans+LJJ%22">Gowans LJJ</searchLink>; Department of Biochemistry and Biotechnology, Kwame Nkrumah University of Science and Technology, Kumasi, Ghana.<br /><searchLink fieldCode="AU" term="%22Hecht+JT%22">Hecht JT</searchLink>; Department of Pediatrics, McGovern Medical School University of Texas Health at Houston, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Mankad+A%22">Mankad A</searchLink>; Department of Anatomy and Cell Biology, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Moreno+Uribe+L%22">Moreno Uribe L</searchLink>; Department of Orthodontics & The Iowa Institute for Oral Health Research, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Scott+DA%22">Scott DA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.<br /><searchLink fieldCode="AU" term="%22Shaw+GM%22">Shaw GM</searchLink>; Department of Pediatrics, Stanford University, Stanford, CA 94305, USA.<br /><searchLink fieldCode="AU" term="%22Thomas+MA%22">Thomas MA</searchLink>; Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB T2N 1N4, Canada.<br /><searchLink fieldCode="AU" term="%22Weinberg+SM%22">Weinberg SM</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Liao+EC%22">Liao EC</searchLink>; Center for Craniofacial Innovation, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.<br /><searchLink fieldCode="AU" term="%22Brand+H%22">Brand H</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.<br /><searchLink fieldCode="AU" term="%22Marazita+ML%22">Marazita ML</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Lipinski+RJ%22">Lipinski RJ</searchLink>; Department of Comparative Biosciences, School of Veterinary Medicine, University of Wisconsin-Madison, Madison, WI 53706, USA.<br /><searchLink fieldCode="AU" term="%22Murray+JC%22">Murray JC</searchLink>; Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA.<br /><searchLink fieldCode="AU" term="%22Cornell+RA%22">Cornell RA</searchLink>; Department of Oral Health Sciences, University of Washington, Seattle, WA 98195, USA.<br /><searchLink fieldCode="AU" term="%22Leslie-Clarkson+EJ%22">Leslie-Clarkson EJ</searchLink>; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA. Electronic address: ejlesli@emory.edu.
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