Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.

Jamsheer, Aleksander

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations. [electronic resource] - Journal of applied genetics Nov 2012 - 415-22 p. digital

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

2190-3883

10.1007/s13353-012-0109-x doi


Acrocephalosyndactylia--diagnosis
Adolescent
Adult
Child
Child, Preschool
DNA Copy Number Variations
Genetic Association Studies--methods
Genetic Testing--methods
Heterozygote
Humans
Infant
Kruppel-Like Transcription Factors--genetics
Male
Middle Aged
Mutation, Missense
Nerve Tissue Proteins--genetics
Pallister-Hall Syndrome--genetics
Pedigree
Point Mutation
Polydactyly--diagnosis
Real-Time Polymerase Chain Reaction--methods
Thumb--abnormalities
Young Adult
Zinc Finger Protein Gli3