Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) syndrome.
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DOI: 10.1093/hmg/ddac119
Abstract: Heterozygous variants in BPTF cause the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) syndrome (MIM#617755) characterized by intellectual disability (ID), speech delay, and postnatal microcephaly. BPTF functions within NURF, a complex comprising… read more here.
Keywords: neurodevelopmental disorder; dysmorphic facies; facies distal; neddfl syndrome ... See more keywords