Articles with "variant trigonocephaly" as a keyword



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A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

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Published in 2020 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51093

Abstract: Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent largeā€scale DNA analyses identified hundreds of candidate genes for NDDs, but a large portion of the cases still remain unexplained. We aimed to identify… read more here.

Keywords: recurrent pja1; neurology; variant trigonocephaly; trigonocephaly neurodevelopmental ... See more keywords