Rare

Genetic testing aids diagnosis in post mid-trimester pregnancy termination of anomalous fetuses

Pub Date : 2026-01-01 DOI: 10.1016/j.rare.2026.100126 Vaidehi Rakholia, Wei Yan Chan, Jiin Ying Lim, Sylvia Kam, Jasmine Goh, Tony Yew Teck Tan, Kwong Wai Choy, Saumya Shekhar Jamuar

Unusual variants in NDUFAF6-associated mitochondrial disease

Pub Date : 2026-01-01 DOI: 10.1016/j.rare.2026.100129 Yuka Aoyama, Julia Grafstein, Parker Houston, Marisa W. Friederich, Roxanne A. Van Hove, Cole R. Michel, Richard Reisdorph, Johan Van Hove, William Gahl, David R. Adams, Lynne Wolfe, Ellen F. Macnamara

Qualitative needs assessment of financial impact on caregivers of children living with rare diseases

Pub Date : 2026-01-01 DOI: 10.1016/j.rare.2026.100119 Florian Delval, James Levine