Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

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Bibliographic Details
Title: Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).
Authors: de Barcelos IP; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Woidill S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gavazzi F; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Modesti NB; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Sevagamoorthy A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Vanderver A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, usa., Adang L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, usa. Electronic address: adangl@chop.edu.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108346. Date of Electronic Publication: 2024 Feb 13.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2024.108346