1.
Clin Case Rep
; 9(2): 790-795, 2021 Feb.
Article
in English
| MEDLINE
| ID: mdl-33598246
ABSTRACT
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.