PT  - JOURNAL ARTICLE
AU  - AlKattan, Wael M.
AU  - Al-Qattan, Mohammad M.
AU  - Bafaqeeh, Sameer A.
TI  - The pathogenesis of the clinical features of oral-facial-digital syndrome type I
AID  - 10.15537/smj.2015.11.12446
DP  - 2015 Nov 01
TA  - Saudi Medical Journal
PG  - 1277--1284
VI  - 36
IP  - 11
4099  - http://smj.org.sa/content/36/11/1277.short
4100  - http://smj.org.sa/content/36/11/1277.full
SO  - Saudi Med J2015 Nov 01; 36
AB  - Oral-facial-digital syndrome type I (OFDI) is an X-linked syndrome, which has several craniofacial and limb features; and hence, patients frequently present to craniofacial and plastic surgeons. Oral-facial-digital syndrome type I is caused by mutations in the CXORF5 gene. The gene product is one of the basal body proteins of a slim microtubule-based organelle called the “primary cilium”. Most of the clinical features of OFDI patients are related to dysfunctions of the primary cilium leading to abnormal Hedgehog signal transduction, depressed planar cell polarity pathway, and errors in cell cycle control.