Title
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.
Type
Publication
Author
Duque-Cordoba PA, Diaz-Ordoñez L, Carvajal-Del-Castillo L, Marmolejo D, Leal AF, Pachajoa H.
Year
2026
Journal
Appl Clin Genet
Volume
19:570428
DOI
10.2147/TACG.S570428