Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1755-8794

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene ; volume:15 ; number:1 ; day:4 ; month:4 ; year:2022 ; pages:1-11 ; date:12.2022
BMC medical genomics ; 15, Heft 1 (4.4.2022), 1-11, 12.2022

Creator: Gholizadeh, Mehdi Agha
Mohammadi-Sarband, Mina
Fardanesh, Fatemeh
Garshasbi, Masoud

Contributor: SpringerLink (Online service)

DOI: 10.1186/s12920-022-01228-6

URN: urn:nbn:de:101:1-2022062220523385769766

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

Last update: 15.08.2025, 7:35 AM CEST

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Gholizadeh, Mehdi Agha
Mohammadi-Sarband, Mina
Fardanesh, Fatemeh
Garshasbi, Masoud
SpringerLink (Online service)

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Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene

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Other Objects (12)

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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

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