Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1756-994X

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly ; volume:13 ; number:1 ; day:25 ; month:2 ; year:2021 ; pages:1-19 ; date:12.2021
Genome medicine ; 13, Heft 1 (25.2.2021), 1-19, 12.2021

Creator: Macken, William L.
Godwin, Annie
Wheway, Gabrielle
Stals, Karen
Nazlamova, Liliya
Ellard, Sian
Alfares, Ahmed
Aloraini, Taghrid
AlSubaie, Lamia
Alfadhel, Majid
Alajaji, Sulaiman
Wai, Htoo A.
Self, Jay
Douglas, Andrew G. L.
Kao, Alexander P.
Guille, Matthew
Baralle, Diana

Contributor: SpringerLink (Online service)

DOI: 10.1186/s13073-021-00850-w

URN: urn:nbn:de:101:1-2021042221392884664657

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

Last update: 14.08.2025, 10:52 AM CEST

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Associated

Macken, William L.
Godwin, Annie
Wheway, Gabrielle
Stals, Karen
Nazlamova, Liliya
Ellard, Sian
Alfares, Ahmed
Aloraini, Taghrid
AlSubaie, Lamia
Alfadhel, Majid
Alajaji, Sulaiman
Wai, Htoo A.
Self, Jay
Douglas, Andrew G. L.
Kao, Alexander P.
Guille, Matthew
Baralle, Diana
SpringerLink (Online service)

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Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

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Other Objects (12)

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Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum

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