Associated Papers
A Case Report of PLXNA1-Related Dworschak-Punetha Neurodevelopmental Disorder With Pachygyria and Polymicrogyria.
Das N et al.
American Journal of Medical Genetics. Part A, 2025
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies.
Dworschak GC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
TRIM71 Deficiency Causes Germ Cell Loss During Mouse Embryogenesis and Is Associated With Human Male Infertility.
Torres-Fernández LA et al.
Frontiers in Cell and Developmental Biology, 2021
34055789 (PubMed )
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