Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View

Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the TWIST2 gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in ind...

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Detalhes bibliográficos
Publicado no:Mol Syndromol
Main Authors: De Maria, Beatrice, de Jager, Tresia, Sarubbi, Caitlin, Bartsch, Oliver, Bianchi, Alberto, Brancati, Francesco, Chung, Hon-Yin B., David, Albert, Kariminejad, Ariana, Foresti, Maura, Gallottini, Marina, Isidor, Bertrand, Marchegiani, Shannon, Martins, Fabiana, Mazzanti, Laura, Roche, Nathalie, Singh, Ankur, Stevens, Cathy, Suga, Kenichi, Zenker, Martin, Hennekam, Raoul C.
Formato: Artigo
Idioma:Inglês
Publicado em: S. Karger AG 2017
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5498967/
https://ncbi.nlm.nih.gov/pubmed/28690482
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000472408
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