De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency.
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| Title: | De novo TLK1 and MDM1 mutations in a patient with a neurodevelopmental disorder and immunodeficiency. |
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| Authors: | Villamor-Payà M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA., Sanchiz-Calvo M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Smak J; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA., Pais L; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Sud M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Shankavaram U; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA., Lovgren AK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Ganesh VS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA 02115, USA., Gay M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Vilaseca M; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Arauz-Garofalo G; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., Palenzuela L; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain., VanNoy G; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., O'Donnell-Luria A; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA., Stracker TH; Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, 08028 Barcelona, Spain.; National Cancer Institute, Center for Cancer Research, Radiation Oncology Branch, Bethesda, MD 20892, USA. |
| Source: | IScience [iScience] 2024 May 18; Vol. 27 (6), pp. 109984. Date of Electronic Publication: 2024 May 18 (Print Publication: 2024). |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 101724038 Publication Model: eCollection Cited Medium: Internet ISSN: 2589-0042 (Electronic) Linking ISSN: 25890042 NLM ISO Abbreviation: iScience Subsets: PubMed not MEDLINE |
| Database: | MEDLINE Ultimate |
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