Associated Papers
Novel blended SNRPE-related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia.
Amudhavalli SM et al.
American Journal of Medical Genetics. Part A, 2023
Additional causal SNRPE mutations in hereditary hypotrichosis simplex.
Pan C et al.
The British Journal of Dermatology, 2021
Select a paper to view details