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

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Location: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1476-5438

Extent: Online-Ressource

Language: Englisch

Notes: online resource.

Bibliographic citation: Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis ; day:8 ; month:8 ; year:2018 ; pages:1-7
European journal of human genetics ; (8.8.2018), 1-7

Creator: Dijk, Tessa van

Contributor: Ferdinandusse, Sacha
Ruiter, Jos P. N.
Alders, Mariëlle
Mathijssen, Inge B.
Parboosingh, Jillian S.
Innes, A. Micheil
Meijers-Heijboer, Hanne
Poll-The, Bwee Tien
Bernier, Francois P.
Wanders, Ronald J. A.
Lamont, Ryan E.
Baas, Frank
SpringerLink (Online service)

DOI: 10.1038/s41431-018-0233-0

URN: urn:nbn:de:101:1-2018091412282503432523

Rights: Der Zugriff auf das Objekt ist unbeschränkt möglich.

Last update: 15.08.2025, 7:39 AM CEST

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Dijk, Tessa van
Ferdinandusse, Sacha
Ruiter, Jos P. N.
Alders, Mariëlle
Mathijssen, Inge B.
Parboosingh, Jillian S.
Innes, A. Micheil
Meijers-Heijboer, Hanne
Poll-The, Bwee Tien
Bernier, Francois P.
Wanders, Ronald J. A.
Lamont, Ryan E.
Baas, Frank
SpringerLink (Online service)

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

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Other Objects (12)

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Feeding characteristics and growth among children with prenatal exposure to Zika virus with and without microcephaly in the microcephaly epidemic research group pediatric cohort

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