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...

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Udgivet i:PLoS One
Main Authors: 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
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2015
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4556711/
https://ncbi.nlm.nih.gov/pubmed/26325687
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0136317
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