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Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2-Related Disorders Based on Age of Presentation.

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Title: Stratification of Phenotypes in Childhood-Onset COL4A1/COL4A2-Related Disorders Based on Age of Presentation.
Authors: Porcari GS; Division of Neurology, Children's Hospital of Philadelphia, PA., Rashid RN; Division of Neurology, Children's Hospital of Philadelphia, PA., Mulvihill CA; Division of Neurology, Children's Hospital of Philadelphia, PA., Beslow LA; Division of Neurology, Children's Hospital of Philadelphia, PA.; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, PA., Schindewolf EM; Division of Neurology, Children's Hospital of Philadelphia, PA., Kaufman MC; Division of Neurology, Children's Hospital of Philadelphia, PA.; Translational Research Informatics Group, Children's Hospital of Philadelphia, PA., Gonzalez AK; Division of Neurology, Children's Hospital of Philadelphia, PA.; Translational Research Informatics Group, Children's Hospital of Philadelphia, PA., Gebb JS; Richard D. Wood Jr Center for Fetal Diagnosis & Treatment, Division of Pediatric General, Thoracic and Fetal Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA; and., Agarwal S; Division of Neurology, Children's Hospital of Philadelphia, PA.; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia., Whitehead MT; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, PA., Cristancho AG; Division of Neurology, Children's Hospital of Philadelphia, PA.; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
Source: Neurology. Genetics [Neurol Genet] 2026 May 04; Vol. 12 (3), pp. e200386. Date of Electronic Publication: 2026 May 04 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Published for the American Academy of Neurology by Wolters Kluwer Country of Publication: United States NLM ID: 101671068 Publication Model: eCollection Cited Medium: Print ISSN: 2376-7839 (Print) Linking ISSN: 23767839 NLM ISO Abbreviation: Neurol Genet Subsets: PubMed not MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Porcari+GS%22">Porcari GS</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Rashid+RN%22">Rashid RN</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Mulvihill+CA%22">Mulvihill CA</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Beslow+LA%22">Beslow LA</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.<br /><searchLink fieldCode="AU" term="%22Dubbs+HA%22">Dubbs HA</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Schindewolf+EM%22">Schindewolf EM</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Kaufman+MC%22">Kaufman MC</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.; Translational Research Informatics Group, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Gonzalez+AK%22">Gonzalez AK</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.; Translational Research Informatics Group, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Gebb+JS%22">Gebb JS</searchLink>; Richard D. Wood Jr Center for Fetal Diagnosis & Treatment, Division of Pediatric General, Thoracic and Fetal Surgery, Department of Surgery, Children's Hospital of Philadelphia, PA; and.<br /><searchLink fieldCode="AU" term="%22Agarwal+S%22">Agarwal S</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.<br /><searchLink fieldCode="AU" term="%22Whitehead+MT%22">Whitehead MT</searchLink>; Division of Neuroradiology, Department of Radiology, Children's Hospital of Philadelphia, PA.<br /><searchLink fieldCode="AU" term="%22Cristancho+AG%22">Cristancho AG</searchLink>; Division of Neurology, Children's Hospital of Philadelphia, PA.; Departments of Neurology and Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
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  Data: <searchLink fieldCode="JN" term="%22101671068%22">Neurology. Genetics</searchLink> [Neurol Genet] 2026 May 04; Vol. 12 (3), pp. e200386. <i>Date of Electronic Publication: </i>2026 May 04 (<i>Print Publication: </i>2026).
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