Antley-Bixler Syndrome, Autosomal Dominant

Source:http://linkedlifedata.com/resource/umls/id/C2936791

MSH: Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2.

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