De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy
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Published:2020-04
Issue:4
Volume:22
Page:797-802
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
Nabais Sá Maria J.ORCID,
Venselaar Hanka,
Wiel Laurens,
Trimouille Aurélien,
Lasseaux Eulalie,
Naudion Sophie,
Lacombe Didier,
Piton Amélie,
Vincent-Delorme Catherine,
Zweier Christiane,
Reis André,
Trollmann Regina,
Ruiz Anna,
Gabau Elisabeth,
Vetro Annalisa,
Guerrini Renzo,
Bakhtiari Somayeh,
Kruer Michael C.,
Amor David J.,
Cooper Monica S.,
Bijlsma Emilia K.,
Barakat Tahsin Stefan,
van Dooren Marieke F.,
van Slegtenhorst Marjon,
Pfundt Rolph,
Gilissen Christian,
Willemsen Michèl A.,
de Vries Bert B.A.,
de Brouwer Arjan P.M.,
Koolen David A.
Subject
Genetics (clinical)
Cited by
19 articles.
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