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Article: Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion

TitleOkur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion
Authors
Chiu, TAPei, LCSMAK, CCYLeung, KCYU, HCLee, SLVreeburg, MPfundt, Rvan der Burgt, IKleefstra, TFrederic, TMTNambot, SFaivre, LBruel, ALRossi, MIsidor, BKury, SCogne, BBesnard, TWillems, MReijnders, MRFChung, BHY
KeywordsCSNK2A1
developmental delay
Okur-Chung syndrome
whole exome sequencing
Issue Date2018
PublisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004
Citation
Clinical Genetics, 2018, v. 93, p. 880-890 How to Cite?
DOI: http://dx.doi.org/10.1111/cge.13196
Persistent Identifierhttp://hdl.handle.net/10722/252712
ISSN
0009-9163
2023 Impact Factor: 2.9
2023 SCImago Journal Rankings: 1.236
ISI Accession Number ID
WOS:000427471000018

 

DC FieldValueLanguage
dc.contributor.authorChiu, TA-
dc.contributor.authorPei, LCS-
dc.contributor.authorMAK, CCY-
dc.contributor.authorLeung, KC-
dc.contributor.authorYU, HC-
dc.contributor.authorLee, SL-
dc.contributor.authorVreeburg, M-
dc.contributor.authorPfundt, R-
dc.contributor.authorvan der Burgt, I-
dc.contributor.authorKleefstra, T-
dc.contributor.authorFrederic, TMT-
dc.contributor.authorNambot, S-
dc.contributor.authorFaivre, L-
dc.contributor.authorBruel, AL-
dc.contributor.authorRossi, M-
dc.contributor.authorIsidor, B-
dc.contributor.authorKury, S-
dc.contributor.authorCogne, B-
dc.contributor.authorBesnard, T-
dc.contributor.authorWillems, M-
dc.contributor.authorReijnders, MRF-
dc.contributor.authorChung, BHY-
dc.date.accessioned2018-05-02T03:18:27Z-
dc.date.available2018-05-02T03:18:27Z-
dc.date.issued2018-
dc.identifier.citationClinical Genetics, 2018, v. 93, p. 880-890-
dc.identifier.issn0009-9163-
dc.identifier.urihttp://hdl.handle.net/10722/252712-
dc.languageeng-
dc.publisherWiley-Blackwell Publishing, Inc. The Journal's web site is located at http://onlinelibrary.wiley.com/journal/10.1111/(ISSN)1399-0004-
dc.relation.ispartofClinical Genetics-
dc.rightsPreprint This is the pre-peer reviewed version of the following article: [FULL CITE], which has been published in final form at [Link to final article]. Authors are not required to remove preprints posted prior to acceptance of the submitted version. Postprint This is the accepted version of the following article: [full citation], which has been published in final form at [Link to final article]. -
dc.subjectCSNK2A1-
dc.subjectdevelopmental delay-
dc.subjectOkur-Chung syndrome-
dc.subjectwhole exome sequencing-
dc.titleOkur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion-
dc.typeArticle-
dc.identifier.emailChiu, TA: atgchiu@hku.hk-
dc.identifier.emailPei, LCS: slcpei@hku.hk-
dc.identifier.emailLeung, KC: gleungkc@hku.hk-
dc.identifier.emailLee, SL: slleem@hku.hk-
dc.identifier.emailChung, BHY: bhychung@hku.hk-
dc.identifier.authorityChung, BHY=rp00473-
dc.identifier.doi10.1111/cge.13196-
dc.identifier.scopuseid_2-s2.0-85041926988-
dc.identifier.hkuros284916-
dc.identifier.volume93-
dc.identifier.spage880-
dc.identifier.epage890-
dc.identifier.isiWOS:000427471000018-
dc.publisher.placeDenmark-
dc.identifier.issnl0009-9163-

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