Article
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
Human mutation - 1 Jun 2011
Shaheen Ranad, Faqeih Eissa, Seidahmed Mohammed Z, Sunker Asma, Alali Faten Ezzat, AlQahtani Khadijah, Alkuraya Fowzan S
Abstract excerpt
Meckel Gruber syndrome (MKS) is an autosomal recessive multisystem disorder that represents a severe form of ciliopathy in humans and is characterized by significant genetic heterogeneity. In this article, we describe the identification of a novel MKS locus MKS8 that we map to TCTN2, in a multiplex consanguineous family. TCTN2 is a paralog of the recently identified Tectonic 1, which has been shown to modulate...
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