Diagnostic Clues and Pitfalls in Pontocerebellar Hypoplasia Type 2A.

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Title: Diagnostic Clues and Pitfalls in Pontocerebellar Hypoplasia Type 2A.
Authors: Herrmann A; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany., Kuhn A; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany., Hackenberg M; Faculty of Medicine and Medical Center, Institute of Medical Biometry and Statistics, University of Freiburg, Freiburg, Germany., Matilainen J; German PCH Patient Network (PCH-Familie e.V.), Böblingen, Germany., Mayer S; Medical Faculty, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; Zoological Institute and Institute of Biological and Chemical Systems - Functional Molecular Systems, Karlsruhe Institute of Technology, Karlsruhe, Germany; Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany., Groeschel S; Department of Child Neurology, Children's Hospital, University of Tübingen, Tübingen, Germany., Uhl M; Division of Pediatric Radiology, Department of Radiology, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany., Krägeloh-Mann I; Department of Child Neurology, Children's Hospital, University of Tübingen, Tübingen, Germany., Janzarik WG; Department of Neuropediatrics and Muscle Disorders, Center for Pediatrics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany. Electronic address: wibke.janzarik@uniklinik-freiburg.de.
Source: Pediatric neurology [Pediatr Neurol] 2026 May; Vol. 178, pp. 186-194. Date of Electronic Publication: 2026 Feb 28.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1873-5150
DOI:10.1016/j.pediatrneurol.2026.02.019