Biallelic variants in KIF14 cause intellectual disability with microcephaly

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Standort: Deutsche Nationalbibliothek Frankfurt am Main

ISSN: 1476-5438

Umfang: Online-Ressource

Sprache: Englisch

Anmerkungen: online resource.

Erschienen in: Biallelic variants in KIF14 cause intellectual disability with microcephaly ; volume:26 ; number:3 ; day:17 ; month:1 ; year:2018 ; pages:330-339 ; date:3.2018
European journal of human genetics ; 26, Heft 3 (17.1.2018), 330-339, 3.2018

Urheber: Makrythanasis, Periklis

Beteiligte Personen und Organisationen: Maroofian, Reza
Stray-Pedersen, Asbjørg
Musaev, Damir
Zaki, Maha S.
Mahmoud, Iman G.
Selim, Laila
Elbadawy, Amera
Jhangiani, Shalini N.
Coban Akdemir, Zeynep H.
Gambin, Tomasz
Sorte, Hanne S.
Heiberg, Arvid
McEvoy-Venneri, Jennifer
James, Kiely N.
Stanley, Valentina
Belandres, Denice
Guipponi, Michel
Santoni, Federico A.
Ahangari, Najmeh
Tara, Fatemeh
Doosti, Mohammad
Iwaszkiewicz, Justyna
Zoete, Vincent
Backe, Paul Hoff
Hamamy, Hanan
Gleeson, Joseph G.
Lupski, James R.
Karimiani, Ehsan Ghayoor
Antonarakis, Stylianos E.
SpringerLink (Online service)

DOI: 10.1038/s41431-017-0088-9

URN: urn:nbn:de:1111-20180425126

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Letzte Aktualisierung: 14.08.2025, 10:51 MESZ

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Beteiligte

Makrythanasis, Periklis
Maroofian, Reza
Stray-Pedersen, Asbjørg
Musaev, Damir
Zaki, Maha S.
Mahmoud, Iman G.
Selim, Laila
Elbadawy, Amera
Jhangiani, Shalini N.
Coban Akdemir, Zeynep H.
Gambin, Tomasz
Sorte, Hanne S.
Heiberg, Arvid
McEvoy-Venneri, Jennifer
James, Kiely N.
Stanley, Valentina
Belandres, Denice
Guipponi, Michel
Santoni, Federico A.
Ahangari, Najmeh
Tara, Fatemeh
Doosti, Mohammad
Iwaszkiewicz, Justyna
Zoete, Vincent
Backe, Paul Hoff
Hamamy, Hanan
Gleeson, Joseph G.
Lupski, James R.
Karimiani, Ehsan Ghayoor
Antonarakis, Stylianos E.
SpringerLink (Online service)

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Biallelic variants in KIF14 cause intellectual disability with microcephaly

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Ähnliche Objekte (12)

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

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A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

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Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

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

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A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

Autosomal dominant intellectual disability

Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability

Variants in HCFC1 and MN1 genes causing intellectual disability in two Pakistani families

Variants in LRRC7 lead to intellectual disability, autism, aggression and abnormal eating behaviors

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