Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Emmanuelle Banquart"'
Autor:
Patrick Edery, Catherine Rey, Vladimir Lazar, Damien Sanlaville, Anne Fautrelle, Marc Le Lorc'h, Caroline Schluth-Bolard, Serge Romana, Emmanuelle Banquart, Audrey Labalme, Marianne Till, Tanguy Martin-Denavit
Publikováno v:
European Journal of Medical Genetics. 51:156-164
Saethre-Chotzen syndrome (SCS), also known as acrocephalosyndactyly III, is an autosomal dominant hereditary disorder characterized by craniofacial and limb anomalies. SCS is generally caused by mutations in the TWIST gene, but several 7p21.3 microde
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::866f7f77fe64536a4eaec58863c4d441
https://doi.org/10.1016/j.ejmg.2007.12.003
https://doi.org/10.1016/j.ejmg.2007.12.003
Autor:
S. Romana, Caroline Schluth-Bolard, Emmanuelle Banquart, Damien Sanlaville, Marc Le Lorc'h, Marie-Pierre Cordier, Christelle Angei, Azim Rafat, Audrey Labalme, Patrick Edery, Marianne Till
Publikováno v:
European journal of medical genetics. 51(6)
Pericentric inversions of chromosome 19 are very rare rearrangements. Only one case was shown to have resulted in duplication deficiency in the offspring. We report a familial case of pericentric inversion of chromosome 19 not detectable by standard
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::169e209feda8046f8603a7806dfb8b3e
https://pubmed.ncbi.nlm.nih.gov/18674648
https://pubmed.ncbi.nlm.nih.gov/18674648