Výsledky vyhledávání - "Anne Fautrelle"

TWIST microdeletion identified by array CGH in a patient presenting Saethre–Chotzen phenotype and a complex rearrangement involving chromosomes 2 and 7

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

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