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Human Disease

Charcot-Marie-Tooth disease type 4B2

Term ID
DOID:0110190
Synonyms
  • autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
  • Charcot-Marie-Tooth neuropathy type 4B2
  • CMT4B2
Definition
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. https://www.ncbi.nlm.nih.gov/pubmed/12554688
References
Ontology
Human Disease   ( DOID:0110190 )
Relationships
is a type of
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Genes Involved
Zebrafish Models