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Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA; OMIM #617527) is a rare autosomal recessive genetic condition associated with mutated PLAA (NM_001031689.3). To date, only six such families… Click to show full abstract
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (NDMSBA; OMIM #617527) is a rare autosomal recessive genetic condition associated with mutated PLAA (NM_001031689.3). To date, only six such families have been recorded [1, 2]. Here, we present the first report of NDMSBA in both China and Asia. This article is protected by copyright. All rights reserved.
Keywords:
neurodevelopmental disorder;
disorder progressive;
progressive microcephaly;
spasticity brain;
brain anomalies;
microcephaly spasticity
Journal Title: Clinical Genetics
Year Published: 2019
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Journal Title: Clinical Genetics
Year Published: 2019
Link to full text (if available)
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recommendations!