HIGHLIGHTS
- who: LAMC and collaborators from the National Institute of Biomedical Genomics (NIBMG), India University of Catania, Italy have published the paper: Case report: LAMC3- associated cortical malformations: Case report of a novel stop-gain variant and literature review, in the Journal: (JOURNAL)
- what: The authors report the clinical and neuroradiological features of a patient with a novel homozygous stop-gain variant in LAMC3 (c.3871C>T; p Arg1291*) identified through whole exome sequencing (WES).
SUMMARY
Metabolic, or neurological diseases was reported. At the age of six, the patient started to experience . . .
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