Article
The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.
PloS one - 1 Jan 2015
Hirano Makito, Satake Wataru, Ihara Kenji, Tsuge Ikuya, Kondo Shuji, Saida Ken, Betsui Hiroyuki, Okubo Kazuhiro, Sakamoto Hikaru, Ueno Shuichi, Ikuno Yasushi, Ishihara Ryu, Iwahashi Hiromi, Ohishi Mitsuru, Mano Toshiyuki, Yamashita Toshihide, Suzuki Yutaka, Nakamura Yusaku, Kusunoki Susumu, Toda Tatsushi
Abstract excerpt
Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-19. In Western countries, this disease is often reported, but remains undiagnosed in many patients until later in life, while only a few patients with no mutations...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.