The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan.

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 report...

Full description

Bibliographic Details
Main Authors: Makito Hirano, Wataru Satake, Kenji Ihara, Ikuya Tsuge, Shuji Kondo, Ken Saida, Hiroyuki Betsui, Kazuhiro Okubo, Hikaru Sakamoto, Shuichi Ueno, Yasushi Ikuno, Ryu Ishihara, Hiromi Iwahashi, Mitsuru Ohishi, Toshiyuki Mano, Toshihide Yamashita, Yutaka Suzuki, Yusaku Nakamura, Susumu Kusunoki, Tatsushi Toda
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2015-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4556711?pdf=render

Internet

http://europepmc.org/articles/PMC4556711?pdf=render

Similar Items