Assistente RarasDescreva sintomas, busque uma doença ou conte sua história. Eu pesquiso em 10.468 doenças raras.
Raras pode cometer erros. Não substitui orientação médica profissional.
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
4 ensaios clínicos encontrados, 3 ativos.
A novel ocular phenotype associated with pathogenic variants in MFSD8 leading to macular dystrophy.
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Severe rhabdomyolysis in neuronal ceroid lipofuscinosis type 7.
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7.
Huntington's disease-specific mis-splicing unveils key effector genes and altered splicing factors.