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Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder.

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Title: Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder.
Authors: Chan JCK; Department of Clinical Genetics, Hong Kong Children's Hospital, Kowloon, Hong Kong., Ho SKL, Cheng SSW, Luk HM
Source: Clinical dysmorphology [Clin Dysmorphol] 2026 Apr 01; Vol. 35 (2), pp. 74-76. Date of Electronic Publication: 2026 Feb 09.
Publication Type: Journal Article
Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: England NLM ID: 9207893 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-5717 (Electronic) Linking ISSN: 09628827 NLM ISO Abbreviation: Clin Dysmorphol Subsets: MEDLINE; In Process
Database: MEDLINE Ultimate
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  Availability: 0
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DbLabel: MEDLINE Ultimate
An: 41661203
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder.
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  Data: <searchLink fieldCode="AU" term="%22Chan+JCK%22">Chan JCK</searchLink>; Department of Clinical Genetics, Hong Kong Children's Hospital, Kowloon, Hong Kong.<br /><searchLink fieldCode="AU" term="%22Ho+SKL%22">Ho SKL</searchLink><br /><searchLink fieldCode="AU" term="%22Cheng+SSW%22">Cheng SSW</searchLink><br /><searchLink fieldCode="AU" term="%22Luk+HM%22">Luk HM</searchLink>
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  Data: <searchLink fieldCode="JN" term="%229207893%22">Clinical dysmorphology</searchLink> [Clin Dysmorphol] 2026 Apr 01; Vol. 35 (2), pp. 74-76. <i>Date of Electronic Publication: </i>2026 Feb 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Lippincott+Williams+%26+Wilkins%22">Lippincott Williams & Wilkins </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9207893 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1473-5717 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209628827%22">09628827 </searchLink><i>NLM ISO Abbreviation: </i>Clin Dysmorphol <i>Subsets: </i>MEDLINE; In Process
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=41661203
RecordInfo BibRecord:
  BibEntity:
    Identifiers:
      – Type: doi
        Value: 10.1097/MCD.0000000000000554
    Languages:
      – Code: eng
        Text: English
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      Pagination:
        StartPage: 74
    Titles:
      – TitleFull: Additional case report supports loss-of-function CCNK variants being causative for a recognizable syndromic neurodevelopmental disorder.
        Type: main
  BibRelationships:
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      – PersonEntity:
          Name:
            NameFull: Chan JCK
      – PersonEntity:
          Name:
            NameFull: Ho SKL
      – PersonEntity:
          Name:
            NameFull: Cheng SSW
      – PersonEntity:
          Name:
            NameFull: Luk HM
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          Dates:
            – D: 01
              M: 04
              Text: 2026 Apr 01
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 1473-5717
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              Value: 35
            – Type: issue
              Value: 2
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            – TitleFull: Clinical dysmorphology
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