De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder-Reference-Cited by-同舟云学术

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder

Published:2022-12 Issue:12 Volume:24 Page:2464-2474
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Sleyp Yoeri^ORCID,Valenzuela Irene,Accogli Andrea,Ballon Katleen,Ben-Zeev Bruria,Berkovic Samuel F.,Broly Martin,Callaerts Patrick,Caylor Raymond C.,Charles Perrine,Chatron Nicolas,Cohen Lior,Coppola Antonietta,Cordeiro Dawn,Cuccurullo Claudia,Cuscó Ivon,Janette diMonda ,Duran-Romaña Ramon,Ekhilevitch Nina,Fernández-Alvarez Paula,Gordon Christopher T.,Isidor Bertrand,Keren Boris,Lesca Gaetan,Maljaars Jarymke,Mercimek-Andrews Saadet,Morrow Michelle M.,Muir Alison M.,Rousseau Frederic,Salpietro Vincenzo,Scheffer Ingrid E.,Schnur Rhonda E.,Schymkowitz Joost,Souche Erika,Steyaert Jean,Stolerman Elliot S.,Vengoechea Jaime,Ville Dorothée,Washington Camerun,Weiss Karin,Zaid Rinat,Sadleir Lynette G.,Mefford Heather C.^ORCID,Peeters Hilde^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical)

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1. Developmental and epileptic encephalopathies;Nature Reviews Disease Primers;2024-09-05

2. Early‐onset West syndrome with developmental delay associated with a novel KLHL20 variant;American Journal of Medical Genetics Part A;2024-03-21

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