Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature

PURPOSE: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients. METHODS: Patients were ascertained through molecular testing laborator...

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Hoofdauteurs: Torti, Erin, Keren, Boris, Palmer, Elizabeth E., Zhu, Zehua, Afenjar, Alexandra, Anderson, Ilse. J., Andrews, Marisa V., Atkinson, Celia, Au, Margaret, Berry, Susan A., Bowling, Kevin M., Boyle, Jackie, Buratti, Julien, Cathey, Sara S., Charles, Perrine, Cogne, Benjamin, Courtin, Thomas, Escobar, Luis F., Finley, Sabra Ledare, Graham, John M., Grange, Dorothy K., Heron, Delphine, Hewson, Stacy, Hiatt, Susan M., Hibbs, Kathleen A., Jayakar, Parul, Kalsner, Louisa, Larcher, Lise, Lesca, Gaetan, Mark, Paul R., Miller, Kathryn, Nava, Caroline, Nizon, Mathilde, Pai, G. Shashidhar, Pappas, John, Parsons, Gretchen, Payne, Katelyn, Putoux, Audrey, Rabin, Rachel, Sabatier, Isabelle, Shinawi, Marwan, Shur, Natasha, Skinner, Steven A., Valence, Stephanie, Warren, Hannah, Whalen, Sandra, Crunk, Amy, Douglas, Ganka, Monaghan, Kristin G., Person, Richard E., Willaert, Rebecca, Solomon, Benjamin D., Juusola, Jane
Formaat: Text
Taal:Engels
Gepubliceerd in: 2019
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Article
Online toegang:https://pmc.ncbi.nlm.nih.gov/articles/PMC7171701/
https://pubmed.ncbi.nlm.nih.gov/30739909
http://dx.doi.org/10.1038/s41436-019-0454-9
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Internet

https://pmc.ncbi.nlm.nih.gov/articles/PMC7171701/
https://pubmed.ncbi.nlm.nih.gov/30739909
http://dx.doi.org/10.1038/s41436-019-0454-9

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