Associated Papers
A Novel Homozygous Variant of TMEM231 in a Case With Hypoplasia of the Cerebellar Vermis and Polydactyly.
Wang T et al.
Frontiers in Pediatrics, 2021
TMEM231 Gene Conversion Associated with Joubert and Meckel-Gruber Syndromes in the Same Family.
Maglic D et al.
Human Mutation, 2016
Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Srour M et al.
Journal of Medical Genetics, 2012
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