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Human Disease

XFE progeroid syndrome

Term ID
DOID:0060590
Synonyms
  • XFEPS
  • XPF-ERCC1 progeroid syndrome
Definition
A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. https://www.ncbi.nlm.nih.gov/pubmed/17183314
References
Ontology
Human Disease   ( DOID:0060590 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations