Novel MBTPS1 Variants and Cutis Laxa Phenotype in the 8th Reported Case of Spondyloepiphyseal Dysplasia, Kondo‐Fu Type
Year: 2025
Type: article
Study design: Case Report
Source: Clinical Genetics
DOI: 10.1111/cge.70084
Authors: Elsa Lucas‐Castro, Francisca Diaz‐González, Silvia Modamio‐Høybjor, Manuel Parrón‐Pajares, Sonia Pajares, Laura Gort, Julián Nevado, Pablo Lapunzina, Antonio Leiva‐Gea, Karen E. Heath
Institutions: Hospital Universitario La Paz, ERN BOND, Universidad Autónoma de Madrid, Instituto de Salud Carlos III, Centre for Biomedical Network Research on Rare Diseases, Hospital Clínic de Barcelona, Consorci Institut D'Investigacions Biomediques August Pi I Sunyer, Andalusian Centre for Nanomedicine and Biotechnology, Instituto de Investigación Biomédica de Málaga
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
Awards: G4512078566, G5634854005, G6791947177
OpenAlex ID: W4414622103