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Danita Velasco

As seen in: The American Journal of Human Genetics
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Articles

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome

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By Kimberley Anderson, Ilana M. Nodelman, Sara Tholl Halldorsdottir, Stefania Benonisdottir, Malak Alghamdi, Naif A.M. Almontashiri, Brenda J. Barry, Matthias Begemann, Sarah Burke, Benjamin Cogné, Ana S.A. Cohen, Carles de Diego Boguñá, Evan E. Eichler, Elizabeth Engle, Jill A Fahrner, Laurence Faivre, Mélanie Fradin, Nico Fuhrmann, Christine W Gao, Gunjan Garg, Mina Grippa, Jacqueline Harris, Kendra Hoekzema, Tova Hershkovitz, Sydney C. Hubbard, Katrien Janssens, Julie A. Jurgens, Stanislav Kmoch, Cordula Knopp, Pablo Lapunzina, Tobias Lindau, Marije Meuwissen, Emily Neuhaus, Mathilde Nizon, Lenka Nosková, Kristen Park, Chirag Patel, Rolph Pfundt, Pankaj Prasun, Nils Rahner, Nathaniel Robin, Carey Ronspies, Jasmin Roohi, Jill A. Rosenfeld, Margarita Saenz, Carol Saunders, Zornitza Stark, Isabelle Thiffault, Danita Velasco, Clara Velmans, Jolijn Verseput, Antonio Vitobello, Tianyun Wang, Karin Weiss, Ingrid M. Wentzensen, Genay O. Pilarowski, Thor Eysteinsson, Madelyn Gillentine, Kari Stefansson, Agnar Helgason, Gregory Bowman, Hans Tomas Bjornsson, Eirny Tholl Thorolfsdottir, Jacquelyn F. Britton, Meral Aktas Koptagel, Farah A. Ladha, Andreina Minicucci, Sarah Thull
| The American Journal of Human Genetics Verified
Keywords CHD1 Mendelian disease sex differences neurodevelopmental disorder Introduction Traditionally, autosomal-dominant disorders have been considered to have limited sex differences, unlike X-linked disorders defined by this feature.
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RNU4atac-opathy - GeneReviews® - NCBI Bookshelf

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By Angela L. Duker, Nic Robertson Verified, Andrew Jackson, Danita Velasco
| nlm.nih.gov
Other Manifestations Brain anomalies. Individuals with RNU4atac-opathy have had varying degrees of brain malformations (see ). In MOPDI, some individuals have required shunting for hydrocephalus and/or cyst drainage. Seizures. Abnormal EEGs and seizures have been observed with children along the RNU4atac-opathy spectrum who have brain abnormalities [] (see also Primordial Dwarfism Registry). In MOPDI, seizures are common [, ] (see also Primordial Dwarfism Registry). Strokes.
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