Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities.
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| Title: | Further evidence of biallelic NAV3 variants associated with recessive neurodevelopmental disorder with dysmorphism, developmental delay, intellectual disability, and behavioral abnormalities. |
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| Authors: | Kakar N; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany.; Department for Biotechnology, FLS&I, BUITEMS, Quetta, Pakistan., Mascarenhas S; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Ali A; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan., Azmatullah; Department of Zoology, Human Genetics Program, Quaid-i-Azam University, Islamabad, Pakistan., Ijlal Haider SM; Institute for Cardiogenetics, University of Lübeck, Lübeck, Germany., Badiger VA; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Ghofrani MS; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Kruse N; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Hashmi SN; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan., Pozojevic J; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Balachandran S; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Toft M; Institute of Clinical Medicine, University of Oslo, P.O Box 1171, 0318, Oslo, Norway.; Department of Neurology, Oslo University Hospital, Nydalen, P.O. Box 4950, 0424, Oslo, Norway., Malik S; Department of Zoology, Human Genetics Program, Quaid-i-Azam University, Islamabad, Pakistan., Händler K; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany., Fatima A; Department of Biological and Biomedical Science, The Aga Khan University, Stadium Road, Karachi, 78400, Pakistan., Iqbal Z; Department of Neurology, Oslo University Hospital, Nydalen, P.O. Box 4950, 0424, Oslo, Norway., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India., Spielmann M; Institut für Humangenetik, Universitätsklinikum Schleswig-Holstein, University of Lübeck and University of Kiel, 23562, Lübeck, Germany. malte.spielmann@uksh.de., Radhakrishnan P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India. p.radhakrishnan@manipal.edu. |
| Source: | Human genetics [Hum Genet] 2025 Jan; Vol. 144 (1), pp. 55-65. Date of Electronic Publication: 2024 Dec 21. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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