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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/
Xrefs

MIM:207410

Parent Relationships

is_a Antley-Bixler syndrome

is_a autosomal dominant disease

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