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A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

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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… Click to show full 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 novel candidate genes for NDDs.

Keywords: recurrent pja1; neurology; variant trigonocephaly; trigonocephaly neurodevelopmental; pja1 variant; neurodevelopmental disorders

Journal Title: Annals of Clinical and Translational Neurology
Year Published: 2020

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