Bardet-Biedl syndrome with nonalcoholic steatohepatitis, hypertension, and hypothyroidism

• 主要な著者: Yatendra Singh (著者), Makrand Singh (著者), Sandeep Raj Saxena (著者), Soniya Prakash (著者), Arun Joshi (著者)
• フォーマット: 図書
• 出版事項: Wolters Kluwer Medknow Publications, 2016-01-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: Connect to this object online.

Bardet-Biedl syndrome (BBS) is a rare, genetically heterogeneous, autosomal recessive inherited disorder with wide variability in expression. The accepted major criteria for diagnosis include retinal dystrophy, obesity, polydactyly, male hypogonadism, mental retardation, and renal dysfunction. We ar...