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Article

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders

12 Jun 2020

Abstract excerpt

OBJECTIVE: 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. METHODS: We performed exome sequencing of 95 patients with NDDs including 51 with trigonocephaly and subsequent...

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PMID: 32530565
DOI: 10.1002/acn3.51093

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