Article
Array-based comparative genomic hybridization identifies a high frequency of copy number variations in patients with syndromic overgrowth.
European journal of human genetics : EJHG - 1 Feb 2010
Malan Valérie, Chevallier Suzanne, Soler Gwendoline, Coubes Christine, Lacombe Didier, Pasquier Laurent, Soulier Jean, Morichon-Delvallez Nicole, Turleau Catherine, Munnich Arnold, Romana Serge, Vekemans Michel, Cormier-Daire Valérie, Colleaux Laurence
Abstract excerpt
Overgrowth syndromes are a heterogeneous group of conditions including endocrine hormone disorders, several genetic syndromes and other disorders with unknown etiopathogenesis. Among genetic causes, chromosomal deletions and duplications such as dup(4)(p16.3), dup(15)(q26qter), del(9)(q22.32q22.3...
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