Article
Identification of a novel MKS locus defined by TMEM107 mutation.
Human molecular genetics - 15 Sept 2015
Shaheen Ranad, Almoisheer Agaadir, Faqeih Eissa, Babay Zainab, Monies Dorota, Tassan Nada, Abouelhoda Mohamed, Kurdi Wesam, Al Mardawi Elham, Khalil Mohamed M I, Seidahmed Mohammed Zain, Alnemer Maha, Alsahan Nada, Sogaty Samira, Alhashem Amal, Singh Ankur, Goyal Manisha, Kapoor Seema, Alomar Rana, Ibrahim Niema, Alkuraya Fowzan S
Abstract excerpt
Meckel-Gruber syndrome (MKS) is a perinatally lethal disorder characterized by the triad of occipital encephalocele, polydactyly and polycystic kidneys. Typical of other disorders related to defective primary cilium (ciliopathies), MKS is genetically heterogeneous with mutations in a dozen genes to date known to cause the disease. In an ongoing effort to characterize MKS clinically and genetically, we implemented...
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