Work

De Novo 3q27.1 Microdeletion Refines the Critical Region and Implicates PSMD2 Haploinsufficiency in Growth and Neurodevelopmental Abnormalities

Year: 2026

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

Authors: Eyyup Uctepe, Fatma Nisa Esen, Hanifenur Mancilar, Sait Tümer, Fahri Celebi, Ahmet Yesilyurt

Institutions: Doğuş University, Acıbadem University

Language: English

Topic: Genomic variations and chromosomal abnormalities

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7134814534

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