MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome)

BACKGROUND: Putative nucleotidyltransferase MAB21L1 is a member of an evolutionarily well-conserved family of the male abnormal 21 (MAB21)-like proteins. Little is known about the biochemical function of the protein; however, prior studies have shown essential roles for several aspects of embryonic...

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Detalles Bibliográficos
Autores principales: Rad, Abolfazl, Altunoglu, Umut, Miller, Rebecca, Maroofian, Reza, James, Kiely N, Çağlayan, Ahmet Okay, Najafi, Maryam, Stanley, Valentina, Boustany, Rose-Mary, Yeşil, Gözde, Sahebzamani, Afsaneh, Ercan-Sencicek, Gülhan, Saeidi, Kolsoum, Wu, Kaman, Bauer, Peter, Bakey, Zeineb, Gleeson, Joseph G, Hauser, Natalie, Gunel, Murat, Kayserili, Hulya, Schmidts, Miriam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2019
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581149/
https://www.ncbi.nlm.nih.gov/pubmed/30487245
http://dx.doi.org/10.1136/jmedgenet-2018-105623

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