All publications
2026
Publication
Variable Expressivity in Type 2 Familial Partial Lipodystrophy Related to a Pathogenic LMNA Variant R482: Maternal Transmission to Non-Identical Twins.
Duque-Cordoba PA, Diaz-Ordoñez L, Carvajal-Del-Castillo L, Marmolejo D, Leal AF, Pachajoa H.
Appl Clin Genet. 2026
Publication
Expanding the Clinical Spectrum of RERE-Related Disorders: A Case Report of Neurodevelopmental Disorder with Brain Malformations Including Chiari Type I.
Pachajoa H, Gutierrez-Obando AM, Leal AF.
Mol Syndromol. 2026
2024
