@article{25981afe9b6e463b81b393ca2e0ad2c6,
title = "CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum",
keywords = "arthrogryposis, developmental delay, genetics, genomics, intellectual disability, neurodevelopmental disorder, rare diseases, Neurodevelopmental Disorders/diagnosis, Genetic Predisposition to Disease, Genetic Association Studies, Humans, Child, Preschool, Male, Syndrome, Phenotype, Nerve Tissue Proteins/genetics, Facies, Female, Mutation",
author = "Palmer, \{Elizabeth E.\} and Chloe Whitton and Hashem, \{Mais O.\} and Clark, \{Robin D.\} and Subhadra Ramanathan and Starr, \{Lois J.\} and Danita Velasco and \{De Dios\}, \{John Karl\} and Emily Singh and Valerie Cormier-Daire and Maya Chopra and Rodan, \{Lance H.\} and Christoffer Nellaker and Shenela Lakhani and Mallack, \{Eric J.\} and Karin Panzer and Alpa Sidhu and Wentzensen, \{Ingrid M.\} and Didier Lacombe and Vincent Michaud and Alkuraya, \{Fowzan S.\}",
note = "Publisher Copyright: {\textcopyright} 2021 John Wiley \& Sons A/S. Published by John Wiley \& Sons Ltd",
year = "2021",
month = oct,
doi = "10.1111/cge.14022",
language = "English",
volume = "100",
pages = "468--477",
journal = "Clinical Genetics",
issn = "0009-9163",
number = "4",
}