Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome-Reference-Cited by-同舟云学术

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

Published:2023-05 Issue:5 Volume:66 Page:104732
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Vitrac Aline^ORCID,Leblond Claire S.,Rolland Thomas,Cliquet Freddy,Mathieu Alexandre,Maruani Anna,Delorme Richard,Schön Michael,Grabrucker Andreas M.,van Ravenswaaij-Arts Conny,Phelan Katy,Tabet Anne-Claude,Bourgeron Thomas

Funder

Université Paris Cité

Institut Pasteur

CNRS

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

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1. Evidence for common mechanisms of pathology between SHANK3 and other genes of Phelan‐McDermid syndrome;Clinical Genetics;2024-02-27

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4. Brain Gene Co-Expression Network Analysis Identifies 22q13 Region Genes Associated with Autism, Intellectual Disability, Seizures, Language Impairment, and Hypotonia;Genes;2023-10-26

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