Article

New Imaging and Clinical Manifestations of NDMSBA Disorder Caused by a Novel Homozygous Missense Variant of PLAA

2021-05-06

Abstract excerpt

<h4>Background: </h4> Phospholipase A-2-activating protein (PLAP) has essential roles in biological pathways. Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA) is a complex neurodevelopmental disease caused by defects in the PLAA gene (MIM: 603873). Herein, we aimed to detect the potential genetic factors contributing to the NDMSBA phenotype in a 2.5-year-old affec...

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Literature Corpus work: 914b1137-749a-59cc-9ef4-a3205e386ebc
DOI: 10.21203/rs.3.rs-464604/v1

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