Article

Variants in<i>PRKAR1B</i>cause a neurodevelopmental disorder with autism spectrum disorder,apraxia, and insensitivity to pain

2020-09-11

Abstract excerpt

<h4>Purpose</h4> We characterize the phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder, who carry heterozygous missense-variants of the PRKAR1B gene. <h4>Methods</h4> Variants of PRKAR1B were identified by single-exome or trio-exome analysis. We contacted the families and physicians of the six individuals in order to collect clinical and phenotypic information. <h4>R...

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Literature Corpus work: 57479495-678e-5a15-acd6-c3fb27569e8a
DOI: 10.1101/2020.09.10.20190314

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