FIBCD1 is an endocytic GAG receptor associated with a novel neurodevelopmental disorder

Whole‐exome sequencing of two patients with idiopathic complex neurodevelopmental disorder (NDD) identified biallelic variants of unknown significance within FIBCD1, encoding an endocytic acetyl group‐binding transmembrane receptor with no known function in the central nervous system. We found that...

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Detalles Bibliográficos
Autores principales: Fell, Christopher W, Hagelkruys, Astrid, Cicvaric, Ana, Horrer, Marion, Liu, Lucy, Li, Joshua Shing Shun, Stadlmann, Johannes, Polyansky, Anton A, Mereiter, Stefan, Tejada, Miguel Angel, Kokotović, Tomislav, Achuta, Venkat Swaroop, Scaramuzza, Angelica, Twyman, Kimberly A, Morrow, Michelle M, Juusola, Jane, Yan, Huifang, Wang, Jingmin, Burmeister, Margit, Choudhury, Biswa, Andersen, Thomas Levin, Wirnsberger, Gerald, Holmskov, Uffe, Perrimon, Norbert, Žagrović, Bojan, Monje, Francisco J, Moeller, Jesper Bonnet, Penninger, Josef M, Nagy, Vanja
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9449597/
https://www.ncbi.nlm.nih.gov/pubmed/35916241
http://dx.doi.org/10.15252/emmm.202215829

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