Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

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Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author: van der Spek, Jet; den Hoed, Joery; Blok, Lot Snijders; Dingemans, Alexander J. M.; Schijven, Dick; Nellaker, Christoffer; Venselaar, Hanka; Astuti, Galuh D. N.; Barakat, Tahsin Stefan; Bebin, E. Martina; Beck-Wodl, Stefanie; Beunders, Gea; Brown, Natasha J.; Brunet, Theresa; Brunner, Han G.; Campeau, Philippe M.; Cuturilo, Goran; Gilissen, Christian; Haack, Tobias B.; Huning, Irina; Husain, Ralf A.; Kamien, Benjamin; Lim, Sze Chern; Lovrecic, Luca; Magg, Janine; Maver, Ales; Miranda, Valancy; Monteil, Danielle C.; Ockeloen, Charlotte W.; Pais, Lynn S.; Plaiasu, Vasilica; Raiti, Laura; Richmond, Christopher; Riess, Angelika; Schwaibold, Eva M. C.; Simon, Marleen E. H.; Spranger, Stephanie; Tan, Tiong Yang; Thompson, Michelle L.; de Vries, Bert B. A.; Wilkins, Ella J.; Willemsen, Marjolein H.; Francks, Clyde; Vissers, Lisenka E. L. M.; Fisher, Simon E.; Kleefstra, Tjitske
Tübinger Autor(en):
Magg, Janine
Riess, Angelika
Beck-Wödl, Stefanie
Haack, Tobias
Published in: Genetics in Medicine (2022), Bd. 24, H. 6, S. 1283-1296
Verlagsangabe: Elsevier Science Inc
Language: English
Full text: http://dx.doi.org/10.1016/j.gim.2022.02.014
ISSN: 1098-3600
DDC Classifikation: 570 - Life sciences; biology
610 - Medicine and health
Dokumentart: Article
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