Articles with "causes syndromic" as a keyword



EFNB2 haploinsufficiency causes a syndromic neurodevelopmental disorder

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Published in 2018 at "Clinical Genetics"

DOI: 10.1111/cge.13234

Abstract: Ephrin B2, one of the ligand of the EphB receptors, is involved in a complex signaling pathway regulating the development of the nervous system, neuronal migration, erythropoiesis and vasculogenesis. We report a patient with a… read more here.

Keywords: efnb2 haploinsufficiency; haploinsufficiency; efnb2; haploinsufficiency causes ... See more keywords