Article
Strømme Syndrome Is a Ciliary Disorder Caused by Mutations in CENPF.
Human mutation - 1 Apr 2016
Filges Isabel, Bruder Elisabeth, Brandal Kristin, Meier Stephanie, Undlien Dag Erik, Waage Trine Rygvold, Hoesli Irene, Schubach Max, de Beer Tjaart, Sheng Ying, Hoeller Sylvia, Schulzke Sven, Røsby Oddveig, Miny Peter, Tercanli Sevgi, Oppedal Truls, Meyer Peter, Selmer Kaja Kristine, Strømme Petter
Abstract excerpt
Strømme syndrome was first described by Strømme et al. (1993) in siblings presenting with "apple peel" type intestinal atresia, ocular anomalies and microcephaly. The etiology remains unknown to date. We describe the long-term clinical follow-up data for the original pair of siblings as well as two previously unreported siblings with a severe phenotype overlapping that of the Strømme syndrome including fetal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.