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Inherited Variants in CHD3 Show Variable Expressivity in Snijders Blok-Campeau Syndrome.

Jet van der Spek,Joery den Hoed,Lot Snijders Blok,Alexander J. M. Dingemans,Dick Schijven,Christoffer Nellaker,Hanka Venselaar,Galuh D. N. Astuti,Tahsin Stefan Barakat,E. Martina Bebin,Stefanie Beck-Wodl,Gea Beunders,Natasha J. Brown,Theresa Brunet,Han G. Brunner,Philippe M. Campeau,Goran Cuturilo,Christian Gilissen,Tobias B. Haack,Irina Huning,Ralf A. Husain,Benjamin Kamien,Sze Chern Lim,Luca Lovrecic,Janine Magg,Ales Maver,Valancy Miranda,Danielle C. Monteil,Charlotte W. Ockeloen,Lynn S. Pais,Vasilica Plaiasu,Laura Raiti,Christopher Richmond,Angelika Riess,Eva M. C. Schwaibold,Marleen E. H. Simon,Stephanie Spranger,Tiong Yang Tan,Michelle L. Thompson,Bert B. A. de Vries,Ella J. Wilkins,Marjolein H. Willemsen,Clyde Francks,Lisenka E. L. M. Vissers,Simon E. Fisher,Tjitske Kleefstra

Genetics in Medicine（2022）

引用 5|浏览27
关键词
CHD3,Inherited variants,Neurodevelopmental disorder,Reduced penetrance,Variable expressivity
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