Article

Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationships

2020-12-08

Abstract excerpt

Hypotonia, Ataxia, and Delayed Development syndrome is a neurodevelopmental disorder caused by heterozygous Early B-Cell Factor 3 ( EBF3 ) loss-of-function variants. Identified in 2016, the full spectrum of clinical findings and the relationship between the EBF3 genotype and clinical outcomes has not been determined beyond its namesake features. We combined a phenotypic assessment of 33 individuals molecularly dia...

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Literature Corpus work: 4095ddf6-add3-5d7c-8ae6-5e6dc72fe56a
DOI: 10.1101/2020.12.07.20238691

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Integrated phenotypic and mutational approach defines EBF3-related HADD syndrome genotype-phenotype relationshipsDOI 10.1101/2020.12.07.20238691Read

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