OFD Type I syndrome: lessons learned from a rare ciliopathy

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,...

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Veröffentlicht in:	Biochemical Society transactions 2020-10, Vol.48 (5), p.1929-1939
Hauptverfasser:	Morleo, Manuela, Franco, Brunella
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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