Article
An unusual clinical severity of 16p11.2 deletion syndrome caused by unmasked recessive mutation of CLN3.
European journal of human genetics : EJHG - 1 Mar 2014
Pebrel-Richard Céline, Debost-Legrand Anne, Eymard-Pierre Eléonore, Greze Victoria, Kemeny Stéphan, Gay-Bellile Mathilde, Gouas Laetitia, Tchirkov Andreï, Vago Philippe, Goumy Carole, Francannet Christine
Abstract excerpt
With the introduction of array comparative genomic hybridization (aCGH) techniques in the diagnostic setting of patients with developmental delay and congenital malformations, many new microdeletion syndromes have been recognized. One of these recently recognized microdeletion syndromes is the 16p11.2 deletion syndrome, associated with variable clinical outcomes including developmental delay, autism spectrum...
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