Zobrazeno 1 - 1
of 1
pro vyhledávání: '"Fatima Graia"'
Autor:
Christine Bellané-Chantelot, Christophe Vincent, Eric Haan, Rima Slim, Annie Nivelon, Fatima Graia, Didier Lacombe, Jean Weissenbach, Maria de Lurdes Pereira, David F. Callen, Denis Le Paslier, Sylvie Compain, Jocelyne Hélias, Christine Petit, Marie-France Croquette, Jacqueline Vigneron, Bruno Lacroix, Vasiliki Kalatzis, Michel Broyer, Jacqueline Levilliers, Daniel Cohen
Publikováno v:
Scopus-Elsevier
The analysis of a de novo 8q12.2-q21.2 deletion led to the identification of a proposed previously undescribed contiguous gene syndrome consisting of Branchio-Oto-Renal (BOR) syndrome, Duane syndrome, hydrocephalus and trapeze aplasia. This is the fi