Article
Characterizing the morbid genome of ciliopathies.
Genome biology - 28 Nov 2016
Shaheen Ranad, Szymanska Katarzyna, Basu Basudha, Patel Nisha, Ewida Nour, Faqeih Eissa, Al Hashem Amal, Derar Nada, Alsharif Hadeel, Aldahmesh Mohammed A, Alazami Anas M, Hashem Mais, Ibrahim Niema, Abdulwahab Firdous M, Sonbul Rawda, Alkuraya Hisham, Alnemer Maha, Al Tala Saeed, Al-Husain Muneera, Morsy Heba, Seidahmed Mohammed Zain, Meriki Neama, Al-Owain Mohammed, AlShahwan Saad, Tabarki Brahim, Salih Mustafa A, Faquih Tariq, El-Kalioby Mohamed, Ueffing Marius, Boldt Karsten, Logan Clare V, Parry David A, Al Tassan Nada, Monies Dorota, Megarbane Andre, Abouelhoda Mohamed, Halees Anason, Johnson Colin A, Alkuraya Fowzan S
Abstract excerpt
BACKGROUND: Ciliopathies are clinically diverse disorders of the primary cilium. Remarkable progress has been made in understanding the molecular basis of these genetically heterogeneous conditions; however, our knowledge of their morbid genome, pleiotropy, and variable expressivity remains incom...
Topics
- Alleles
- Cilia
- Ciliary Motility Disorders
- Ciliopathies
- DNA Mutational Analysis
- Encephalocele
- Genetic Association Studies
- Genetic Heterogeneity