Novel FREM1 Mutations Expand the Phenotypic Spectrum Associated with Manitoba-Oculo-Tricho-Anal (MOTA) Syndrome and Bifid Nose Renal Agenesis Anorectal Malformations (BNAR) Syndrome

Loss of function mutations in FREM1 have been demonstrated in Manitoba-oculo-tricho-anal (MOTA) syndrome and Bifid Nose Renal Agenesis and Anorectal malformations (BNAR) syndrome, but the wider phenotypic spectrum that is associated with FREM1 mutations remains to be defined. We screened three proba...

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Detalhes bibliográficos
Main Authors: Nathanson, Jared, Swarr, Daniel T., Singer, Amihood, Liu, Mochi, Chinn, Amy, Jones, Wendy, Hurst, Jane, Khalek, Nahla, Zackai, Elaine, Slavotinek, Anne
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3581754/
https://ncbi.nlm.nih.gov/pubmed/23401257
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.35736
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