Novel FREM1 mutations expand the phenotypic spectrum associated with Manitoba-oculo-tricho-anal (MOTA) syndrome and bifid nose renal agenesis anorectal malformations (BNAR) syndrome.
Nathanson J, Swarr DT, Singer A, Liu M, Chinn A, Jones W, Hurst J, Khalek N, Zackai E, Slavotinek A.
Nathanson J, et al.
Am J Med Genet A. 2013 Mar;161A(3):473-8. doi: 10.1002/ajmg.a.35736. Epub 2013 Feb 8.
Am J Med Genet A. 2013.
PMID: 23401257
Free PMC article.
We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA syndrome because of bilateral eyelid colobomas, a bifid nasal tip, hydrometrocolpos and vaginal atresia, we found two nonsense mutations …
We screened three probands with phenotypic features of MOTA syndrome. In one severely affected infant who was diagnosed with MOTA …