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Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay |
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Titel: |
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay |
Auteur: |
Machol, Keren Rousseau, Justine Ehresmann, Sophie Garcia, Thomas Nguyen, Thi Tuyet Mai Spillmann, Rebecca C. Sullivan, Jennifer A. Shashi, Vandana Jiang, Yong-hui Stong, Nicholas Fiala, Elise Willing, Marcia Pfundt, Rolph Kleefstra, Tjitske Cho, Megan T. McLaughlin, Heather Rosello Piera, Monica Orellana, Carmen MartĂnez, Francisco Caro-Llopis, Alfonso Monfort, Sandra Roscioli, Tony Nixon, Cheng Yee Buckley, Michael F. Turner, Anne Jones, Wendy D. van Hasselt, Peter M. Hofstede, Floris C. van Gassen, Koen L.I. Brooks, Alice S. van Slegtenhorst, Marjon A. Lachlan, Katherine Sebastian, Jessica Madan-Khetarpal, Suneeta Sonal, Desai Sakkubai, Naidu Thevenon, Julien Faivre, Laurence Maurel, Alice Petrovski, SlavĂ© Krantz, Ian D. Tarpinian, Jennifer M. Rosenfeld, Jill A. Lee, Brendan H. Campeau, Philippe M. |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 104 (2019) nr. 1 pagina's 164-178 |
Jaar: |
2019 |
Inhoud: |
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Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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