World J Clin Cases
January 2020
Background: Oral-facial-digital syndrome type 1 (OFD1) is a rare ciliopathy mainly with an X-linked dominant pattern of inheritance, which is caused by mutations in the gene. The OFD1 protein is located within the centrosomes and basal bodies of the primary cilia. It is reported that approximately 15%-50% cases of OFD1 progress to end-stage renal disease (ESRD) following development of polycystic kidney diseases (PKD).
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