An article just came out in Spine claiming to have found a novel locus for adult idiopathic scoliosis (AIS) and pectus excavatum (PE). With an n of 65:
[...] we have identified an increased incidence of PE in a large multigenerational family with AIS and in an independent cohort of AIS patients. Because the etiology of these 2 conditions are likely related, we considered both phenotypes as affected in our linkage analysis, and were therefore able to identify a novel genetic locus for AIS and PE on chromosome 18 q.
I’ll read it later to determine whether my reservations are well founded. The n doesn’t bother me nearly as much as the “likely related” comment.
Tags: Genetics, Scoliosis








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