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Browsing Articles (Hospital del Mar Research Institute) by Subject "Facial dysmorphism"

Browsing Articles (Hospital del Mar Research Institute) by Subject "Facial dysmorphism"

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  • Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants
    Souzeau, Emmanuelle; Siggs, Owen M.; Pasutto, Francesca; Knight, Lachlan S. W.; Pérez Jurado, Luis Alberto; McGregor, Lesley; Le Blanc, Shannon; Barnett, Christopher P.; Liebelt, Jan; Craig, Jamie E. (Wiley, 2020)
    Axenfeld-Rieger syndrome is a genetic condition characterized by ocular and systemic features and is most commonly caused by variants in the FOXC1 or PITX2 genes. Facial dysmorphism is part of the syndrome but the differences ...

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