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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Bibliografiske detaljer
Udgivet i: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.
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2017
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Original Article
Online adgang: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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