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Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2.
Aslanger AD, Altunoglu U, Aslanger E, Satkın BN, Uyguner ZO, Kayserili H. Aslanger AD, et al. Am J Med Genet A. 2014 Feb;164A(2):484-9. doi: 10.1002/ajmg.a.36277. Epub 2013 Oct 29. Am J Med Genet A. 2014. PMID: 24449201 Review.
We also report on additional findings not previously described in MACS syndrome, including bronchiectasis and hypergonadotropic hypogonadism. Finally, our overall data support the argument that RIN2 syndrome is a more appropriate name for the disorder....
We also report on additional findings not previously described in MACS syndrome, including bronchiectasis and hypergonadotropic hypogonadism …
RIN2 syndrome: Expanding the clinical phenotype.
Rosato S, Syx D, Ivanovski I, Pollazzon M, Santodirocco D, De Marco L, Beltrami M, Callewaert B, Garavelli L, Malfait F. Rosato S, et al. Am J Med Genet A. 2016 Sep;170(9):2408-15. doi: 10.1002/ajmg.a.37789. Epub 2016 Jun 8. Am J Med Genet A. 2016. PMID: 27277385 Review.
Patients with RIN2 syndrome present phenotypic overlap with other conditions, including EDS (especially the dermatosparaxis and kyphoscoliosis subtypes). ...Besides the hallmark features, this patient also presents problems not previously associated with RIN2 …
Patients with RIN2 syndrome present phenotypic overlap with other conditions, including EDS (especially the dermatosparaxis an …