De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities.
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| Title: | De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities. |
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| Authors: | Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Esen FN; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Mancilar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Tümer S; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey., Celebi F; Department of Psychology, Dogus University, Faculty of Arts and Sciences, Istanbul, Turkey., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Turkey.; Acibadem Maslak Hospital, Istanbul, Turkey. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2026 Jul; Vol. 200 (7), pp. 1601-1607. Date of Electronic Publication: 2026 Mar 10. |
| Publication Type: | Journal Article; Case Reports |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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