Article
OFD Type I syndrome: lessons learned from a rare ciliopathy.
Biochemical Society transactions - 30 Oct 2020
Morleo Manuela, Franco Brunella
Abstract excerpt
The OFD1 gene was initially identified as the gene responsible for the X-linked dominant male lethal OFD type I syndrome, a developmental disorder ascribed to cilia disfunction. The transcript has been subsequently associated to four different X-linked recessive conditions, namely Joubert syndrome, retinitis pigmentosa, primary ciliary dyskinesia and Simpson-Golabi-Behmel type 2 syndrome. The centrosomal/basal...
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