A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.

MLA

Quental, Rita, et al. “A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.” Neuropediatrics, vol. 54, no. 2, Apr. 2023, pp. 120–25. EBSCOhost, https://doi.org/10.1055/s-0042-1760366.

APA

Quental, R., Sampaio, M., Alonso, I., Quental, S., Leão, M., & Sousa, R. (2023). A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature. Neuropediatrics, 54(2), 120–125. https://doi.org/10.1055/s-0042-1760366

Chicago

Quental, Rita, Mafalda Sampaio, Isabel Alonso, Sofia Quental, Miguel Leão, and Raquel Sousa. 2023. “A Novel Homozygous Splice Site Variant in AIMP1 Gene Causing Hypomyelinating Leukodystrophy: Case Report and Review of the Literature.” Neuropediatrics 54 (2): 120–25. doi:10.1055/s-0042-1760366.