Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies in China caused by novel mutations of PLAA
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DOI: 10.1111/cge.13608
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].… read more here.
Keywords: neurodevelopmental disorder; disorder progressive; progressive microcephaly; spasticity brain ... See more keywords