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

We describe the clinical features of nine unrelated individuals with rare de novo missense or in-frame deletions/duplications within the “HX motif” of exon 7 of ATN1. We previously proposed that individuals with such variants should be considered as being affected by the syndromic condition of conge...

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Bibliographic Details
Main Authors:	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
Format:	Journal article
Language:	English
Published:	Wiley 2021

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

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