Ontology highlight
ABSTRACT:
SUBMITTER: Hirano M
PROVIDER: S-EPMC4556711 | biostudies-literature | 2015
REPOSITORIES: biostudies-literature
Hirano Makito M Satake Wataru W Ihara Kenji K Tsuge Ikuya I Kondo Shuji S Saida Ken K Betsui Hiroyuki H Okubo Kazuhiro K Sakamoto Hikaru H Ueno Shuichi S Ikuno Yasushi Y Ishihara Ryu R Iwahashi Hiromi H Ohishi Mitsuru M Mano Toshiyuki T Yamashita Toshihide T Suzuki Yutaka Y Nakamura Yusaku Y Kusunoki Susumu S Toda Tatsushi T
PloS one 20150901 9
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 identified have been reported in Japan. We thus conducted the first nationwide survey of B ...[more]