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Human Disease

Joubert syndrome 28

Term ID
DOID:0110997
Synonyms
  • JBTS28
Definition
A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. https://www.ncbi.nlm.nih.gov/pubmed/24886560
References
Ontology
Human Disease   ( DOID:0110997 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models