Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
About this item
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Author / Creator
Kortüm, Fanny , Jamra, Rami Abou , Alawi, Malik , Berry, Susan A. , Borck, Guntram , Helbig, Katherine L. , Tang, Sha , Huhle, Dagmar , Korenke, Georg Christoph , Hebbar, Malavika , Shukla, Anju , Girisha, Katta M. , Steinlin, Maja , Waldmeier-Wilhelm, Sandra , Montomoli, Martino , Guerrini, Renzo , Lemke, Johannes R. and Kutsche, Kerstin
Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publication information
Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Pontocerebellar hypoplasia (PCH) represents a group of autosomal-recessive progressive neurodegenerative disorders of prenatal onset. Eleven PCH subtypes are classified according to clinical, neuroimaging and genetic findings. Individuals with PCH type 9 (PCH9) have a unique combination of postnatal microcephaly, hypoplastic cerebellum and pons, an...
Alternative Titles
Full title
Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9
Authors, Artists and Contributors
Author / Creator
Jamra, Rami Abou
Alawi, Malik
Berry, Susan A.
Borck, Guntram
Helbig, Katherine L.
Tang, Sha
Huhle, Dagmar
Korenke, Georg Christoph
Hebbar, Malavika
Shukla, Anju
Girisha, Katta M.
Steinlin, Maja
Waldmeier-Wilhelm, Sandra
Montomoli, Martino
Guerrini, Renzo
Lemke, Johannes R.
Kutsche, Kerstin
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5945775
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5945775
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-018-0098-2
