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TMEM231 gene

Known as: TMEM231, MKS11, JBTS20 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
There are few reported cases of tectocerebellar dysraphia with occipital encephalocele (TCD-OE) in the literature. This… Expand
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Review
2017
Review
2017
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial, oral and digital abnormalities… Expand
2016
2016
Joubert and Meckel–Gruber syndromes (JS and MGS) are ciliopathies with overlapping features. JS patients manifest the “molar… Expand
2016
2016
Author(s): Roberson, Elle Caitlin | Advisor(s): Reiter, Jeremy F | Abstract: Primary cilia are signaling organelles that project… Expand
Highly Cited
2015
Highly Cited
2015
TMEM231, a functional component of the MKS complex at the ciliary transition zone, is mutated in orofaciodigital syndrome type 3… Expand
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2015
2015
Objective Ciliopathies are a group of heterogeneous disorders caused by mutations in proteins associated with primary cilia. Many… Expand
2013
2013
Background Meckel–Gruber syndrome (MKS) is a genetically heterogeneous severe ciliopathy characterised by early lethality… Expand
Highly Cited
2012
Highly Cited
2012
Background Joubert syndrome (JBTS) is a predominantly autosomal recessive disorder characterised by a distinctive midhindbrain… Expand