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Human Disease

Antley-Bixler syndrome with disordered steroidogenesis

Term ID
DOID:0050462
Synonyms
  • trapezoidocephaly-synostosis syndrome
Definition
An Antley-Bixler syndrome 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. (2)
References
Ontology
Human Disease   ( DOID:0050462 )
Relationships
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Genes Involved
Zebrafish Models
Citations