Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

Autor: Bonnet, F., Andrieux, A, Béri-Dexheimer, D, Leheup, L, Boute, B, Manouvrier, M, Delobel, D, Copin, C., Receveur, A., Mathieu, M., Thiriez, G., Le Caignec, L, David, D, de Blois, M, Malan, M, Philippe, P., Cormier-Daire, D, Colleaux, Laurence, Flori, F, Dollfus, D, Pelletier, P, Thauvin-Robinet, C., Masurel-Paulet, P, Faivre, F, Tardieu, M., Bahi-Buisson, N., Callier, P., Mugneret, F., Edery, P., Jonveaux, P., Sanlaville, D., Andrieux, J., Beri-Dexheimer, M., Leheup, B., Boute, O., Manouvrier, S., Delobel, B., Copin, H., Le Caignec, C., David, A., de Blois, C., Malan, V., Philippe, A., Cormier-Daire, V., Flori, E., Dollfus, H., Pelletier, V., Masurel-Paulet, A., Faivre, L.

Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩
Journal of Medical Genetics, 2010, 47 (6), pp.377-384. ⟨10.1136/jmg.2009.071902⟩

International audience; BACKGROUND Genome-wide screening of large patient cohorts with mental retardation using microarray-based comparative genomic hybridisation (array-CGH) has recently led to identification several novel microdeletion and microdup

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::84d21789522ba39d025b7a17e0cd5160
https://hal.archives-ouvertes.fr/hal-02128729