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Biallelic SLC20A2 loss-of-function in severe early-onset neurodevelopmental disorder with brain calcification

Year: 2026

Type: article

Study design: Case Report

Source: Journal of Human Genetics

DOI: 10.1038/s10038-026-01503-9

Authors: Mehmet Burak Mutlu, Abdullah Sezer, Elif Özdemir, Ayşe Kaçar Bayram, Deniz Güven, Şükriye Yılmaz, Nil Sazlı, Deniz Karataş, Emine Öz, Zeynep Bayramlar, Özlem Öz

Institutions: Intergen (Turkey), Ankara Etlik City Hospital, Manisa Celal Bayar University, Istanbul Medeniyet University, Harran University

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W7203481934

FWCI:

Cites: 43

Cited by:

Related to: 10