@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",
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",
}