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Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.

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Title: Expanding the Clinical and Molecular Spectrum of Primary Autosomal Recessive Microcephaly: Novel CDK5RAP2 Gene Variants and Functional Insights on the Intronic Variants.
Authors: Yeter B; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Kendir Demirkol Y; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Usluer E; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye., Görüşen Kavak İ; Department of Pediatrics, School of Medical, Marmara University, Istanbul 34899, Türkiye., Ergin SG; Intergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara 06510, Türkiye., Elçioğlu NH; Department of Pediatric Genetics, School of Medical, Marmara University, Istanbul 34899, Türkiye.; Department of Pediatric Genetics, School of Medical, Eastern Mediterranean University, Mersin 99628, Türkiye.
Source: Genes [Genes (Basel)] 2025 Sep 23; Vol. 16 (10). Date of Electronic Publication: 2025 Sep 23.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Yeter+B%22">Yeter B</searchLink>; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye.<br /><searchLink fieldCode="AU" term="%22Kendir+Demirkol+Y%22">Kendir Demirkol Y</searchLink>; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye.<br /><searchLink fieldCode="AU" term="%22Usluer+E%22">Usluer E</searchLink>; Department of Pediatric Genetics, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul 34764, Türkiye.<br /><searchLink fieldCode="AU" term="%22Görüşen+Kavak+İ%22">Görüşen Kavak İ</searchLink>; Department of Pediatrics, School of Medical, Marmara University, Istanbul 34899, Türkiye.<br /><searchLink fieldCode="AU" term="%22Ergin+SG%22">Ergin SG</searchLink>; Intergen Genetics and Rare Disease Diagnosis Center, R&D Department, Ankara 06510, Türkiye.<br /><searchLink fieldCode="AU" term="%22Elçioğlu+NH%22">Elçioğlu NH</searchLink>; Department of Pediatric Genetics, School of Medical, Marmara University, Istanbul 34899, Türkiye.; Department of Pediatric Genetics, School of Medical, Eastern Mediterranean University, Mersin 99628, Türkiye.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2025 Sep 23; Vol. 16 (10). <i>Date of Electronic Publication: </i>2025 Sep 23.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE
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