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Frontiers3d
Familial partial lipodystrophy resulting from loss-of-function PPARγ pathogenic variants: phenotypic, clinical, and genetic features
Type 4 FPLD occurs due to heterozygous pathogenic variants in the PLIN1 gene, responsible for encoding the lipid droplet-associated perilipin-1 protein (9). FPLD type 5 results from a homozygous ...
The Lancet6d
Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation
aResearch Unit, Hospital Universitario Nuestra Señora de Candelaria, Instituto de Investigación Sanitaria de Canarias, Santa Cruz de Tenerife, Spain bGenomics Division, Instituto Tecnológico y de ...