- Tytuł:
-
Comprehensive review and expanding the genetic landscape of Cornelia-
de -Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases. - Autorzy:
- Źródło:
- BMC medical genomics [BMC Med Genomics] 2024 Jan 12; Vol. 17 (1), pp. 20. Date of Electronic Publication: 2024 Jan 12.
- Typ publikacji:
- Review; Journal Article
- MeSH Terms:
-
Cell Cycle Proteins*/genetics
De Lange Syndrome */geneticsDe Lange Syndrome */diagnosis
Humans ; Exome ; Mutation ; Phenotype ; DNA ; Biopsy
Czasopismo naukowe