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TWIST microdeletion identified by array CGH in a patient presenting Saethre-Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7.
Eur J Med Genet. 2008 Mar-Apr;51(2):156-64. doi: 10.1016/j.ejmg.2007.12.003. Epub 2007 Dec 24.
Eur J Med Genet. 2008.
PMID: 18255367
Monosomy 19pter and trisomy 19q13-qter in two siblings arising from a maternal pericentric inversion: clinical data and molecular characterization.
Schluth-Bolard C, Till M, Rafat A, Labalme A, Le Lorc'h M, Banquart E, Angei C, Cordier MP, Romana SP, Edery P, Sanlaville D.
Schluth-Bolard C, et al. Among authors: banquart e.
Eur J Med Genet. 2008 Nov-Dec;51(6):622-30. doi: 10.1016/j.ejmg.2008.06.009. Epub 2008 Jul 12.
Eur J Med Genet. 2008.
PMID: 18674648
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