Kang, S
GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. [electronic resource]
- Nature genetics Mar 1997
- 266-8 p. digital
Publication Type: Journal Article
1061-4036
10.1038/ng0397-266 doi
Abnormalities, Multiple--genetics
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 7
DNA-Binding Proteins--genetics
Female
Frameshift Mutation
Hamartoma--genetics
Humans
Hypothalamic Diseases--genetics
Infant, Newborn
Kruppel-Like Transcription Factors
Male
Molecular Sequence Data
Nerve Tissue Proteins
Pedigree
Polydactyly--genetics
Polymerase Chain Reaction
Polymorphism, Genetic
Polymorphism, Single-Stranded Conformational
Repressor Proteins
Syndrome
Transcription Factors--genetics
Xenopus Proteins
Zinc Finger Protein Gli3
Zinc Fingers