Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.
Dollfus, Hélène
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. [electronic resource] - American journal of medical genetics May 2002 - 218-25 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0148-7299
10.1002/ajmg.10349 doi
Acrocephalosyndactylia--genetics
Amino Acid Substitution
Animals
Family Health
Female
Genetic Variation
Humans
Male
Mice
Mice, Inbred Strains
Mice, Mutant Strains
Mice, Transgenic
Mutation
Nuclear Proteins--genetics
Pedigree
Transcription Factors--genetics
Twist-Related Protein 1
Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation. [electronic resource] - American journal of medical genetics May 2002 - 218-25 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0148-7299
10.1002/ajmg.10349 doi
Acrocephalosyndactylia--genetics
Amino Acid Substitution
Animals
Family Health
Female
Genetic Variation
Humans
Male
Mice
Mice, Inbred Strains
Mice, Mutant Strains
Mice, Transgenic
Mutation
Nuclear Proteins--genetics
Pedigree
Transcription Factors--genetics
Twist-Related Protein 1