American journal of medical genetics. Part A
A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.
Niladri Das, Rajesh Kumar Maurya, Shubha R Phadke, Amita Moirangthem
Published: 202510.1002/ajmga.70028
Abstract
Plexin-A1 is involved in axonal guidance in the developing human brain. Variants in the PLXNA1 gene are associated with a neurodevelopmental disorder characterized by early-onset epilepsy, intellectual disability, syndromic features, and brain and ey…
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