TY  - GEN
AU  - Dollfus,Hélène
AU  - Biswas,Partha
AU  - Kumaramanickavel,Govindsamy
AU  - Stoetzel,Corinne
AU  - Quillet,Renaud
AU  - Biswas,Jyotirmay
AU  - Lajeunie,Elisabeth
AU  - Renier,Dominique
AU  - Perrin-Schmitt,Fabienne
TI  - Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation
SN  - 0148-7299
PY  - 2002///0808
KW  - Acrocephalosyndactylia
KW  - genetics
KW  - Amino Acid Substitution
KW  - Animals
KW  - Family Health
KW  - Female
KW  - Genetic Variation
KW  - Humans
KW  - Male
KW  - Mice
KW  - Mice, Inbred Strains
KW  - Mice, Mutant Strains
KW  - Mice, Transgenic
KW  - Mutation
KW  - Nuclear Proteins
KW  - Pedigree
KW  - Transcription Factors
KW  - Twist-Related Protein 1
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1002/ajmg.10349
ER  -