Article
Clinical features of SMARCA2 duplication overlap with Coffin-Siris syndrome.
American journal of medical genetics. Part A - 1 Oct 2016
Miyake Noriko, Abdel-Salam Ghada, Yamagata Takanori, Eid Maha M, Osaka Hitoshi, Okamoto Nobuhiko, Mohamed Amal M, Ikeda Takahiro, Afifi Hanan H, Piard Juliette, van Maldergem Lionel, Mizuguchi Takeshi, Miyatake Satoko, Tsurusaki Yoshinori, Matsumoto Naomichi
Abstract excerpt
Coffin-Siris syndrome is a rare congenital malformation and intellectual disability syndrome. Mutations in at least seven genes have been identified. Here, we performed copy number analysis in 37 patients with features of CSS in whom no causative mutations were identified by exome sequencing. We identified a patient with a 9p24.3-p22.2 duplication and another patient with the chromosome der(6)t(6;9)(p25;p21)mat....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.