Prenatal Diagnosis of SMPD4 loss - a neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies.
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DOI: 10.1002/pd.6324
Abstract: SMPD4 loss is a rare neurodevelopmental disorder that leads to severe mental and physical disability and early death in infancy. Most cases of this genetic condition have been diagnosed postnatally. This article focuses on the… read more here.
Keywords: smpd4 loss; neurodevelopmental disorder; loss; arthrogryposis ... See more keywords