- Tytuł:
-
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of
mutation and phenotypic spectrum. - Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2012 Apr; Vol. 20 (4), pp. 381-8. Date of Electronic Publication: 2011 Nov 30.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Genetic Heterogeneity*
Mutation *
Phenotype*
Abnormalities, Multiple/*genetics
DNA-Binding Proteins/*genetics
Hematologic Diseases/*genetics
Neoplasm Proteins/*genetics
Vestibular Diseases/*genetics
Cohort Studies ; Face/abnormalities ; Female ; Humans ; Sequence Analysis, DNA - SCR Disease Name:
- Kabuki syndrome
Czasopismo naukowe