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. |
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| 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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| ISSN: | 1399-0004 |
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| DOI: | 10.1111/cge.14763 |
