Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype

Blepharophimosis with intellectual disability and Helsmoortel‐Van Der Aa Syndrome share episignature and phenotype

Blepharophimosis with intellectual disability (BIS) is a recently recognized disorder distinct from Nicolaides‐Baraister syndrome that presents with distinct facial features of blepharophimosis, developmental delay, and intellectual disability. BIS is caused by pathogenic variants in SMARCA2, that e...

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Bibliographic Details
Main Authors: Sarli, C, van der Laan, L, Reilly, J, Trajkova, S, Carli, D, Brusco, A, Levy, MA, Relator, R, Kerkhof, J, McConkey, H, Tedder, ML, Skinner, C, Alders, M, Henneman, P, Hennekam, RCM, Ciaccio, C, D'Arrigo, S, Vitobello, A, Faivre, L, Weber, S, Vincent‐Devulder, A, Perrin, L, Bourgois, A, Yamamoto, T, Kini, U
Format: Journal article
Language:English
Published: Wiley 2024

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