EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

doi:10.1111/cge.14017

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Article

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

Clinical genetics - 1 Oct 2021

Lévy Jonathan, Schell Bérénice, Nasser Hala, Rachid Myriam, Ruaud Lyse, Couque Nathalie, Callier Patrick, Faivre Laurence, Marle Nathalie, Engwerda Aafke, van Ravenswaaij-Arts Conny M A, Plutino Morgane, Karmous-Benailly Houda, Benech Caroline, Redon Sylvia, Boute Odile, Boudry Labis Elise, Rama Mélanie, Kuentz Paul, Assoumani Jessica, Maldergem Lionel Van, Dupont Céline, Verloes Alain, Tabet Anne-Claude

Abstract excerpt

Ephrin receptor and their ligands, the ephrins, are widely expressed in the developing brain. They are implicated in several developmental processes that are crucial for brain development. Deletions in genes encoding for members of the Eph/ephrin receptor family were reported in several neurodevelopmental disorders. The ephrin receptor A7 gene (EPHA7) encodes a member of ephrin receptor subfamily of the...

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PMID: 34176129
DOI: 10.1111/cge.14017

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