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NARA Subscribed1
Publisher
Springer Nature1
Journal
Human Genetics1
Publication Year
20211
Pascal Joset results 1 · Newest (Page 1/1, per page 25)
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Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsyNARA Subscribed
Human Genetics · 2021 · Vol. 140 · Issue 7 · Springer
Ilaria Parenti; Daphné Lehalle; Caroline Nava; Erin Torti; Elsa Leitão; Richard Person; Takeshi Mizuguchi; Naomichi Matsumoto; Mitsuhiro Kato; Kazuyuki Nakamura; Stella A. de Man; Heidi Cope; Vandana Shashi; Jennifer Friedman; Pascal Joset; Katharina Steindl; Anita Rauch; Irena Muffels; Peter M. van Hasselt; Florence Petit; Thomas Smol; Gwenaël Le Guyader; Frédéric Bilan; Arthur Sorlin; Antonio Vitobello; Christophe Philippe; Ingrid M. B. H. van de Laar; Marjon A. van Slegtenhorst; Philippe M. Campeau; Ping Yee Billie Au; Mitsuko Nakashima; Hirotomo Saitsu; Tatsuya Yamamoto; Yumiko Nomura; Raymond J. Louie; Michael J. Lyons; Amy Dobson; Astrid S. Plomp; M. Mahdi Motazacker; Frank J. Kaiser; Andrew T. Timberlake; Sabine A. Fuchs; Christel Depienne; Cyril Mignot
Located in the critical 1p36 microdeletion region, the chromodomain helicase DNA-binding protein 5 ( CHD5 ) gene encodes a subunit of the nucleosome remodeling and deacetylation (NuRD) complex required for neuronal development. Pathogenic variants in six of nine chromodomain (CHD) genes cause autosomal dominant neurodevelopmental disorders, while CHD5 -related disorders are still unknown. Thanks to GeneMatcher and internationa...
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