- Tytuł:
- Early onset horizontal gaze palsy and progressive scoliosis due to a noncanonical splicing-site variant and a missense variant in the ROBO3 gene.
- Autorzy:
- Źródło:
- Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Sep; Vol. 11 (9), pp. e2215. Date of Electronic Publication: 2023 Jun 18.
- Typ publikacji:
- Review; Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Ocular Motility Disorders*/diagnosis
Ocular Motility Disorders*/genetics
Scoliosis*/pathology
Humans ;Receptors , Immunologic/genetics ;Receptors ,Cell Surface /genetics ; Prospective Studies ; Paralysis
Czasopismo naukowe