Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins
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Familial partial lipodystrophy type 2 (FPLD2), or Dunnigan syndrome, is a rare autosomal dominant disorder caused by mutations in the lamin A (LMNA) gene, most frequently involving the p.R482W variant. It is characterized by regional loss of subcutaneous fat a... ...
