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Antley-bixler syndrome
autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene
Pronunciation
/ˈæntli - ˈbɪkslər ˈsɪnˌdroʊm/
Categories
autosomal recessive disease
rare disease