Antley-Bixler syndrome without disordered steroidogenesis

Term ID

DOID:0081290

Synonyms

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/

References

• MIM:207410

Ontology

Human Disease   ( DOID:0081290 )