1.
Clin Case Rep
; 9(2): 790-795, 2021 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33598246
RESUMO
Clinical exome sequencing is a powerful approach to overcome the wide clinical and genetic heterogeneity of mucopolysaccharidosis. These data could be useful for prenatal diagnosis of MPS VII, genetic counseling, and preimplantation genetic testing.