Du génotype au phénotype : Analyse comparée de mutations du gène de déficience intellectuelle PAK3

Du génotype au phénotype : Analyse comparée de mutations du gène de déficience intellectuelle PAK3

La déficience intellectuelle (DI) est souvent associée à d’autres signes cliniques morphologiques et psychiatriques mais cette comorbidité est peu caractérisée pour la DI associée à un gène donné. Ainsi les mutations du gène p21-activated kinase 3 (PAK3) sont responsable d’un large spectre clinique,...

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Bibliographic Details
Main Author:	Duarte, Kévin
Other Authors:	Paris Saclay
Language:	fr
Published:	2019
Subjects:	Déficience Intellectuelle Relation Génotype-Phénotype Signalisation Anomalies Morphologiques du Cerveau Intellectual Disability Genotype-Phenotype Relationships Signalling pathways Brain Morphological Abnormalities
Online Access:	http://www.theses.fr/2019SACLS511

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