- Tytuł:
- Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.
- Autorzy:
- Źródło:
- European journal of human genetics : EJHG [Eur J Hum Genet] 2004 Nov; Vol. 12 (11), pp. 879-90.
- Typ publikacji:
- Journal Article; Research Support, Non-U.S. Gov't
- MeSH Terms:
-
Mutation*
Mandibulofacial Dysostosis/*genetics
Nuclear Proteins/*genetics
Phosphoproteins/*genetics
Chromosome Mapping ; DNA Mutational Analysis/methods ; Female ; Genetic Variation ; Genotype ; Humans ; Male ; Mandibulofacial Dysostosis/diagnosis ; Pedigree ; Phenotype ; Polymorphism, Single Nucleotide ; Syndrome
Czasopismo naukowe