Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.

Saved in:
Bibliographic Details
Title: Heterozygous variants in PLCG1 affect hearing, vision, cardiac, and immune function.
Authors: Ma M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Zheng Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Deng M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Lu S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Pan X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Luo X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Etoundi M; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Department of Neurology, Baylor College of Medicine, Houston, United States., Li-Kroeger D; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.; Department of Neurology, Baylor College of Medicine, Houston, United States., Worley KC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Blieden LS; The Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, United States., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States., Chen WL; Department of Neurology, Baylor College of Medicine, Houston, United States.; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States., Merla G; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy., Mandriani B; Department of Interdisciplinary Medicine, University of Bari 'Aldo Moro', Bari, Italy., Otten CE; Department of Neurology, University of Washington and Seattle Children's Hospital, Seattle, United States., Blanc P; SeqOIA Genomics Platform, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Dutta D; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States., Glass IA; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.; Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, United States.; Brotman Baty Institute, Seattle, United States., Chen J; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States., Blue E; Division of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, United States.; Brotman Baty Institute, Seattle, United States.; Institute for Public Health Genetics, University of Washington, Seattle, United States., Prontera P; Medical Genetics and Rare Diseases Unit, Hospital of Perugia, Perugia, Italy., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Imagine Institute, Necker Hospital for Sick Children, Paris, France.; Center for the Study of Immune Deficiencies, Necker-Enfants Malades Hospital, AP-HP Centre, University of Paris, Paris, France., Marlin S; Genetics of Rare Ophthalmological, Auditory and Mitochondrial Disorders, Inserm UMR_S1163, Imagine Institute, Paris, France.; Reference Center for Genetic Deafness, Department of Genomic Medicine for Rare Diseases, Necker-Enfants Malades Hospital, AP-HP Centre, University of Paris, Paris, France., Lalani SR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States., Bellen HJ; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, United States.
Corporate Authors: Undiagnosed Diseases Network
Source: ELife [Elife] 2025 Aug 27; Vol. 13. Date of Electronic Publication: 2025 Aug 27.
Publication Type: Journal Article
Journal Info: Publisher: eLife Sciences Publications, Ltd Country of Publication: England NLM ID: 101579614 Publication Model: Electronic Cited Medium: Internet ISSN: 2050-084X (Electronic) Linking ISSN: 2050084X NLM ISO Abbreviation: Elife Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2050-084X
DOI:10.7554/eLife.95887