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    • TAF1 Variants are associated with dysmorphic features, intellectual disability, and neurological manifestations 

      O’Rawe, Jason A.; Wu, Yiyang; Dörfel, Max J.; Rope, Alan F.; Billie Au, P.Y.; Parboosingh, Jillian S.; Moon, Sungjin; Kousi, Maria; Kosma, Konstantina; Smith, Christopher S.; Tzeti, 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.
      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 ...
       Artículo. 2015

       

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