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. |
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| 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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