Defining the TRPM3 related spectrum: Possible ocular and joints defects, and inconstant epilepsy.

We report a novel patient with the same recurrent de novo missense of TRPM3 found in seven of these eight cases, p.(Val837Met), but with a slightly different phenotype.
PMID: 32439617 [PubMed - as supplied by publisher]

Source: European Journal of Medical Genetics - May 17, 2020 Category: Genetics & Stem Cells Authors: Agathe JS, Van-Gils J, Lasseaux E, Arveiler B, Lacombe D, Pfirrmann C, Raclet V, Gaston L, Plaisant C, Aupy J, Trimouille A Tags: Eur J Med Genet Source Type: research