Journal of Rare Diseases

Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity

Pub Date : 2024-07-23 DOI: 10.1007/s44162-024-00045-y Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer Hani, C. Mehawej, Eliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim

Dental management of Fanconi anemia: a rare congenital disorder

Pub Date : 2024-07-10 DOI: 10.1007/s44162-024-00050-1 Jacqueline Jacinta Dias, Ankit Gupta, A. K. Shreehari

Clinical and genetic analysis of Niemann-Pick disease type C with a novel NPC1 variant

Pub Date : 2024-07-08 DOI: 10.1007/s44162-024-00043-0 Mostafa Neissi, A. Al-Badran, Misagh Mohammadi-Asl, R. Al-Badran, Motahareh Sheikh-Hosseini, Mojdeh Roghani, J. Mohammadi-Asl