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A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.

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Title: A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.
Authors: Mingoia M; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy., Meloni A; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy., Sedda S; Antonio Cao Children's Hospital ASL, Cagliari, Italy., Choufani S; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Asunis I; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy., Gemma G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Ammendola A; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Science and Technology, University of Sannio, Benevento, Italy., Torabi-Marashi A; The Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada., di Venere E; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Squeo GM; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Rallo V; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy., Marini MG; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy., Moi P; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.; Antonio Cao Children's Hospital ASL, Cagliari, Italy., Savasta S; Antonio Cao Children's Hospital ASL, Cagliari, Italy., Weksberg R; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada., Merla G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Angius A; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.
Source: Clinical genetics [Clin Genet] 2025 Nov; Vol. 108 (5), pp. 576-581. Date of Electronic Publication: 2025 Apr 30.
Publication Type: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A Novel Intronic Variant in the KH3 Domain of HNRNPK Leads to a Mild Form of Au-Kline Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Mingoia+M%22">Mingoia M</searchLink>; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.<br /><searchLink fieldCode="AU" term="%22Meloni+A%22">Meloni A</searchLink>; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.<br /><searchLink fieldCode="AU" term="%22Sedda+S%22">Sedda S</searchLink>; Antonio Cao Children's Hospital ASL, Cagliari, Italy.<br /><searchLink fieldCode="AU" term="%22Choufani+S%22">Choufani S</searchLink>; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Asunis+I%22">Asunis I</searchLink>; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.<br /><searchLink fieldCode="AU" term="%22Gemma+G%22">Gemma G</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Ammendola+A%22">Ammendola A</searchLink>; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.; Department of Science and Technology, University of Sannio, Benevento, Italy.<br /><searchLink fieldCode="AU" term="%22Torabi-Marashi+A%22">Torabi-Marashi A</searchLink>; The Centre for Computational Medicine, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22di+Venere+E%22">di Venere E</searchLink>; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Squeo+GM%22">Squeo GM</searchLink>; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Rallo+V%22">Rallo V</searchLink>; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.<br /><searchLink fieldCode="AU" term="%22Marini+MG%22">Marini MG</searchLink>; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.<br /><searchLink fieldCode="AU" term="%22Moi+P%22">Moi P</searchLink>; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.; Antonio Cao Children's Hospital ASL, Cagliari, Italy.<br /><searchLink fieldCode="AU" term="%22Savasta+S%22">Savasta S</searchLink>; Antonio Cao Children's Hospital ASL, Cagliari, Italy.<br /><searchLink fieldCode="AU" term="%22Weksberg+R%22">Weksberg R</searchLink>; Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Merla+G%22">Merla G</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory and Functional Genomics, Fondazione IRCCS Casa Sollievo Della Sofferenza, San Giovanni Rotondo, Foggia, Italy.<br /><searchLink fieldCode="AU" term="%22Angius+A%22">Angius A</searchLink>; Institute of Genetic and Biomedical Research, CNR, Cagliari, Monserrato, Italy.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Nov; Vol. 108 (5), pp. 576-581. <i>Date of Electronic Publication: </i>2025 Apr 30.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Munksgaard%22">Munksgaard </searchLink><i>Country of Publication: </i>Denmark <i>NLM ID: </i>0253664 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1399-0004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200099163%22">00099163 </searchLink><i>NLM ISO Abbreviation: </i>Clin Genet <i>Subsets: </i>MEDLINE
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