- Tytuł:
- Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
- Autorzy:
- Źródło:
- Scientific reports [Sci Rep] 2024 Jan 28; Vol. 14 (1), pp. 2330. Date of Electronic Publication: 2024 Jan 28.
- Typ publikacji:
- Journal Article
- MeSH Terms:
-
Artificial Intelligence*
Hematologic Diseases*/diagnosis
Hematologic Diseases*/genetics
Abnormalities, Multiple*
Vestibular Diseases*
Face/*abnormalities
Humans ; Mutation ; Retrospective Studies ; Phenotype ;Histone Demethylases /genetics ; Genotype - SCR Disease Name:
- Kabuki syndrome
Czasopismo naukowe