Article
Further molecular and clinical delineation of the Wisconsin syndrome phenotype associated with interstitial 3q24q25 deletions.
American journal of medical genetics. Part A - 1 Jan 2011
Willemsen Marjolein H, de Leeuw Nicole, Mercer Catherine, Eisenhauer Helen, Morris Joanne, Collinson Morag N, Barber John C K, Lam Stephen T S, Lo Ivan F M, Rensen Hanneke, Ferwerda Annemarie, Hamel Ben C J, Kleefstra Tjitske
Abstract excerpt
Deletions of the distal 3q22.3 region encompassing the gene forkhead transcription factor FOXL2 (FOXL2) usually result in intellectual disability (ID) and the highly recognizable blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). We encountered three patients with molecularly defined interstitial deletions distal to the FOXL2 gene. They present with remarkably similar manifestations comprising variable...
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