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Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.

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Title: Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
Authors: Urreizti R; Clinical Biochemistry Department, Hospital Sant Joan de Déu. Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain., Vissicchio J; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA., Idries M; St. George's University, Department of Biochemistry, St. George's, Grenada., Cozar M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain., Rabionet R; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain., Donald T; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Nomakuchi TT; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Shipley SC; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Timms AE; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA., Mirzaa GM; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Serrano M; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain., Sobering AK; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.
Source: American journal of medical genetics. Part A [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64095. Date of Electronic Publication: 2025 Apr 29.
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants.
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  Data: <searchLink fieldCode="AU" term="%22Urreizti+R%22">Urreizti R</searchLink>; Clinical Biochemistry Department, Hospital Sant Joan de Déu. Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Vissicchio+J%22">Vissicchio J</searchLink>; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.<br /><searchLink fieldCode="AU" term="%22Idries+M%22">Idries M</searchLink>; St. George's University, Department of Biochemistry, St. George's, Grenada.<br /><searchLink fieldCode="AU" term="%22Cozar+M%22">Cozar M</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Rabionet+R%22">Rabionet R</searchLink>; Department of Genetics, Microbiology and Statistics, Faculty of Biology, Universitat de Barcelona, IBUB, IRSJD, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Donald+T%22">Donald T</searchLink>; Pediatrics Ward, Grenada General Hospital, St. George's, Grenada.<br /><searchLink fieldCode="AU" term="%22Bhoj+EJ%22">Bhoj EJ</searchLink>; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Nomakuchi+TT%22">Nomakuchi TT</searchLink>; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Shipley+SC%22">Shipley SC</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.<br /><searchLink fieldCode="AU" term="%22Timms+AE%22">Timms AE</searchLink>; Department of Laboratory Medicine, University of Washington, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Mirzaa+GM%22">Mirzaa GM</searchLink>; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.; Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Serrano+M%22">Serrano M</searchLink>; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), Barcelona, Spain.; Pediatric Neurology Department, Hospital Sant Joan de Déu, Institut de Recerca Sant Joan de Déu (IRSJD), Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Sobering+AK%22">Sobering AK</searchLink>; Augusta University and University of Georgia Medical Partnership, Athens, Georgia, USA.; St. George's University, Department of Biochemistry, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.
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  Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2025 Sep; Vol. 197 (9), pp. e64095. <i>Date of Electronic Publication: </i>2025 Apr 29.
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