Mandibuloacral dysplasia type A in five tunisian patients.
R S, H M, M T, A A, M G, I H, E K, K M, F M, R M.
R S, et al. Among authors: r m.
Eur J Med Genet. 2021 Feb;64(2):104138. doi: 10.1016/j.ejmg.2021.104138. Epub 2021 Jan 8.
Eur J Med Genet. 2021.
PMID: 33422685
Genotype-phenotype correlation found that at least one of the disease's LMNA mutant alleles involve one of the highly conserved aminoacids, residing in a key site domain for protein function within the C-terminal globular domain of A-type lamins. ...
Genotype-phenotype correlation found that at least one of the disease's LMNA mutant alleles involve one of the highly conserved aminoacids, …