- Tytuł:
-
A novel de novo nonsense mutation in SALL4 causing
duane radial raysyndrome : a case report and expanding the phenotypic spectrum. - Autorzy:
- Źródło:
- BMC medical genomics [BMC Med Genomics] 2023 Feb 24; Vol. 16 (1), pp. 33. Date of Electronic Publication: 2023 Feb 24.
- Typ publikacji:
- Case Reports; Journal Article
- MeSH Terms:
-
Duane Retraction Syndrome */geneticsDuane Retraction Syndrome */pathology
Humans ; Codon, Nonsense ; Iran ; Transcription Factors/genetics ; Mutation ; Pedigree
Czasopismo naukowe