Biallelic mutations in NRROS cause an early onset lethal microgliopathy

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1432-0533

Umfang: Online-Ressource

Sprache: Englisch

Anmerkungen: online resource.

Erschienen in: Biallelic mutations in NRROS cause an early onset lethal microgliopathy ; volume:139 ; number:5 ; day:25 ; month:2 ; year:2020 ; pages:947-951 ; date:5.2020
Acta neuropathologica ; 139, Heft 5 (25.2.2020), 947-951, 5.2020

Urheber: Smith, Colin
McColl, Barry W.
Patir, Anirudh
Barrington, Jack
Armishaw, Jeremy
Clarke, Antonia
Eaton, Jenny
Hobbs, Vivienne
Mansour, Sahar
Nolan, Melinda
Rice, Gillian I.
Rodero, Mathieu P.
Seabra, Luis
Uggenti, Carolina
Livingston, John H.
Bridges, Leslie R.
Jeffrey, Iona J. M.
Crow, Yanick J.

Beteiligte Personen und Organisationen: SpringerLink (Online service)

DOI: 10.1007/s00401-020-02137-7

URN: urn:nbn:de:101:1-2020070406323513402534

Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.

Letzte Aktualisierung: 14.08.2025, 10:59 MESZ

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Beteiligte

Smith, Colin
McColl, Barry W.
Patir, Anirudh
Barrington, Jack
Armishaw, Jeremy
Clarke, Antonia
Eaton, Jenny
Hobbs, Vivienne
Mansour, Sahar
Nolan, Melinda
Rice, Gillian I.
Rodero, Mathieu P.
Seabra, Luis
Uggenti, Carolina
Livingston, John H.
Bridges, Leslie R.
Jeffrey, Iona J. M.
Crow, Yanick J.
SpringerLink (Online service)

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Biallelic mutations in NRROS cause an early onset lethal microgliopathy

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Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy

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Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis

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