Antley-Bixler syndrome 1 is an autosomal recessive disorder caused by mutations of the POR gene. Aside of the typical dysmorphic skeletal features, type 1 is characterized by genital abnormalities that are more common with the female karyotype due to impaired steroidogenesis.
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OMIM.ORG article Omim 201750 |
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Orphanet article Orphanet ID 83 |