| Metadata | |
|---|---|
| ID | DOID:0081290 |
| Name | Antley-Bixler syndrome without disordered steroidogenesis |
| Definition | An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. https://pubmed.ncbi.nlm.nih.gov/15793702/ |
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