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Clinical and genetic analyses in syndromic intellectual disability with primary microcephaly reveal biallelic and de novo variants in patients with parental consanguinity.
Mercan, Sevcan; Akcakaya, Nihan Hande; Salman, Baris; Yapici, Zuhal; Ozbek, Ugur; Ugur Iseri, Sibel Aylin.
Affiliation
  • Mercan S; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Vakif Gureba Cad., Fatih, 34093, Istanbul, Turkey.
  • Akcakaya NH; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Salman B; Department of Bioengineering, Faculty of Engineering and Architecture, Kafkas University, Kars, Turkey.
  • Yapici Z; Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Vakif Gureba Cad., Fatih, 34093, Istanbul, Turkey.
  • Ozbek U; Graduate School of Health Sciences, Istanbul University, Istanbul, Turkey.
  • Ugur Iseri SA; Department of Neurology, Faculty of Medicine, Demiroglu Bilim University, Istanbul, Turkey.
Genes Genomics ; 45(1): 13-21, 2023 01.
Article in En | MEDLINE | ID: mdl-36371492
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genes Genomics Year: 2023 Document type: Article Affiliation country: Turquía Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genes Genomics Year: 2023 Document type: Article Affiliation country: Turquía Country of publication: