Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.

Teber, Ozge Altug

Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. [electronic resource] - European journal of human genetics : EJHG Nov 2004 - 879-90 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1018-4813

10.1038/sj.ejhg.5201260 doi


Chromosome Mapping
DNA Mutational Analysis--methods
Female
Genetic Variation
Genotype
Humans
Male
Mandibulofacial Dysostosis--diagnosis
Mutation
Nuclear Proteins--genetics
Pedigree
Phenotype
Phosphoproteins--genetics
Polymorphism, Single Nucleotide
Syndrome