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Article

Further expanding the clinical phenotype in Bainbridge-Ropers syndrome and dissecting genotype-phenotype correlation in the ASXL3 mutational cluster regions.

European journal of medical genetics - 1 Jan 2021

Yu Kris Pui-Tak, Luk Ho-Ming, Fung Jasmine L F, Chung Brian Hon-Yin, Lo Ivan Fai-Man

Abstract excerpt

Bainbridge-Ropers syndrome (BRPS) [OMIM#615485] is a neurodevelopmental disorder, characterized by delayed psychomotor development with generalized hypotonia, intellectual disability with poor or absent speech, feeding difficulties, growth failure, specific craniofacial and minor skeletal features. It was firstly reported in 2013 by Bainbridge et al., who observed a group of individuals sharing overlapping...

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PMID: 33242595
DOI: 10.1016/j.ejmg.2020.104107

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