CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum

Palmer EE., Whitton C., Hashem MO., Clark RD., Ramanathan S., Starr LJ., Velasco D., De Dios JK., Singh E., Cormier‐Daire V., Chopra M., Rodan LH., Nellaker C., Lakhani S., Mallack EJ., Panzer K., Sidhu A., Wentzensen IM., Lacombe D., Michaud V., Alkuraya FS.

DOI

10.1111/cge.14022

Type

Journal article

Journal

Clinical Genetics

Publisher

Wiley

Publication Date

13/07/2021

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