Article
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.
European journal of medical genetics - 1 Mar 2014
Yamamoto Toshiyuki, Mencarelli Maria Antonietta, Di Marco Chiara, Mucciolo Mafalda, Vascotto Marina, Balestri Paolo, Gérard Marion, Mathieu-Dramard Michèle, Andrieux Joris, Breuning Martijn, Hoffer Mariëtte J V, Ruivenkamp Claudia A L, Shimada Shino, Sangu Noriko, Shimojima Keiko, Umezu Ryoji, Kawame Hiroshi, Matsuo Mari, Saito Kayoko, Renieri Alessandra, Mari Francesca
Abstract excerpt
Microdeletions in the 15q22 region have not been well documented. We collected genotype and phenotype data from five patients with microdeletions involving 15q22.2, which were between 0.7 Mb and 6.5 Mb in size; two were of de novo origin and one was of familial origin. Intellectual disability and...
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