Work

NovelKIAA1033/WASHC4mutations in three patients with syndromic intellectual disability and a review of the literature

Year: 2020

Type: article

Study design: Case Report

Source: American Journal of Medical Genetics Part A

DOI: 10.1002/ajmg.a.61487

Authors: Mirna Assoum, Ange‐Line Bruel, Melissa L. Crenshaw, Julian Delanne, Ingrid M. Wentzensen, Kirsty McWalter, Karin M. Dent, Antonio Vitobello, Paul Kuentz, Julien Thevenon, Yannis Duffourd, Christel Thauvin‐Robinet, Laurence Faivre

Institutions: Inserm, Université de Bourgogne, CHU Dijon Bourgogne, Johns Hopkins University, Johns Hopkins All Children's Hospital, University of Utah

Language: English

Topic: Genetics and Neurodevelopmental Disorders

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Conseil régional de Bourgogne-Franche-Comté

Award: G1232794436

OpenAlex ID: W2999701522

FWCI: 1.611

Cites: 14

Cited by: 14

Related to: 10