TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

We describe an X-linked genetic syndrome associated with mutations in TAF1 and manifesting with global developmental delay, intellectual disability (ID), characteristic facial dysmorphology, generalized hypotonia, and variable neurologic features, all in male individuals. Simultaneous studies using...

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Bibliografiset tiedot
Julkaisussa:Am J Hum Genet
Päätekijät: O’Rawe, Jason A., Wu, Yiyang, Dörfel, Max J., Rope, Alan F., Au, P.Y. Billie, Parboosingh, Jillian S., Moon, Sungjin, Kousi, Maria, Kosma, Konstantina, Smith, Christopher S., Tzetis, Maria, Schuette, Jane L., Hufnagel, Robert B., Prada, Carlos E., Martinez, Francisco, Orellana, Carmen, Crain, Jonathan, Caro-Llopis, Alfonso, Oltra, Silvestre, Monfort, Sandra, Jiménez-Barrón, Laura T., Swensen, Jeffrey, Ellingwood, Sara, Smith, Rosemarie, Fang, Han, Ospina, Sandra, Stegmann, Sander, Den Hollander, Nicolette, Mittelman, David, Highnam, Gareth, Robison, Reid, Yang, Edward, Faivre, Laurence, Roubertie, Agathe, Rivière, Jean-Baptiste, Monaghan, Kristin G., Wang, Kai, Davis, Erica E., Katsanis, Nicholas, Kalscheuer, Vera M., Wang, Edith H., Metcalfe, Kay, Kleefstra, Tjitske, Innes, A. Micheil, Kitsiou-Tzeli, Sophia, Rosello, Monica, Keegan, Catherine E., Lyon, Gholson J.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Elsevier 2015
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Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC4678794/
https://ncbi.nlm.nih.gov/pubmed/26637982
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.11.005
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