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Human Disease

craniosynostosis 7

Term ID
DOID:0060912
Synonyms
  • CRS7
Definition
A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. https://pubmed.ncbi.nlm.nih.gov/23438589/
References
Ontology
Human Disease   ( DOID:0060912 )
Relationships
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Genes Involved
Zebrafish Models