A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders
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DOI: 10.1002/acn3.51093
Abstract: Neurodevelopmental disorders (NDDs) often associate with epilepsy or craniofacial malformations. Recent large‐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