TY  - GEN
AU  - Schluth-Bolard,Caroline
AU  - Till,Marianne
AU  - Labalme,Audrey
AU  - Rey,Catherine
AU  - Banquart,Emmanuelle
AU  - Fautrelle,Anne
AU  - Martin-Denavit,Tanguy
AU  - Le Lorc'h,Marc
AU  - Romana,Serge Pierrick
AU  - Lazar,Vladimir
AU  - Edery,Patrick
AU  - Sanlaville,Damien
TI  - TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7
SN  - 1769-7212
PY  - 2008///0624
KW  - Acrocephalosyndactylia
KW  - genetics
KW  - Adult
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 2
KW  - Chromosomes, Human, Pair 7
KW  - Female
KW  - Gene Deletion
KW  - Gene Rearrangement
KW  - Humans
KW  - Infant, Newborn
KW  - Male
KW  - Nuclear Proteins
KW  - Nucleic Acid Hybridization
KW  - Oligonucleotide Array Sequence Analysis
KW  - Phenotype
KW  - Twist-Related Protein 1
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1016/j.ejmg.2007.12.003
ER  -