Dr. Thatjana Gardeitchik, MD (Nijmegen, the Netherlands) : Neurometabolic Defects in CL

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The underlying molecular defects in Cutis Laxa Sybdromes can also be roughly divided in two groups,

based on type of involved pathomechanism : defects in genes coding a « structural » ECM-component or in genes in which mutations can inborn errors of metabolism (IEM) presenting with Cutis Laxa.

The exact way these divergent molecular lead to elastin abnormalities remain unclarified.