Article
In search of triallelism in Bardet-Biedl syndrome.
European journal of human genetics : EJHG - 1 Apr 2012
Abu-Safieh Leen, Al-Anazi Shamsa, Al-Abdi Lama, Hashem Mais, Alkuraya Hisham, Alamr Mushari, Sirelkhatim Mugtaba O, Al-Hassnan Zuhair, Alkuraya Basim, Mohamed Jawahir Y, Al-Salem Ahmad, Alrashed May, Faqeih Eissa, Softah Ameen, Al-Hashem Amal, Wali Sami, Rahbeeni Zuhair, Alsayed Moeen, Khan Arif O, Al-Gazali Lihadh, Taschner Peter E M, Al-Hazzaa Selwa, Alkuraya Fowzan S
Abstract excerpt
Bardet-Biedl syndrome (BBS) is a model disease for ciliopathy in humans. The remarkable genetic heterogeneity that characterizes this disease is consistent with accumulating data on the interaction between the proteins encoded by the 14 BBS genes identified to date. Previous reports suggested that such interaction may also extend to instances of oligogenic inheritance in the form of triallelism which defies the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.