Article
A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.
European journal of human genetics : EJHG - 1 Oct 2020
Drivas Theodore G, Li Dong, Nair Divya, Alaimo Joseph T, Alders Mariëlle, Altmüller Janine, Barakat Tahsin Stefan, Bebin E Martina, Bertsch Nicole L, Blackburn Patrick R, Blesson Alyssa, Bouman Arjan M, Brockmann Knut, Brunelle Perrine, Burmeister Margit, Cooper Gregory M, Denecke Jonas, Dieux-Coëslier Anne, Dubbs Holly, Ferrer Alejandro, Gal Danna, Bartik Lauren E, Gunderson Lauren B, Hasadsri Linda, Jain Mahim, Karimov Catherine, Keena Beth, Klee Eric W, Kloth Katja, Lace Baiba, Macchiaiolo Marina, Marcadier Julien L, Milunsky Jeff M, Napier Melanie P, Ortiz-Gonzalez Xilma R, Pichurin Pavel N, Pinner Jason, Powis Zoe, Prasad Chitra, Radio Francesca Clementina, Rasmussen Kristen J, Renaud Deborah L, Rush Eric T, Saunders Carol, Selcen Duygu, Seman Ann R, Shinde Deepali N, Smith Erica D, Smol Thomas, Snijders Blok Lot, Stoler Joan M, Tang Sha, Tartaglia Marco, Thompson Michelle L, van de Kamp Jiddeke M, Wang Jingmin, Weise Dagmar, Weiss Karin, Woitschach Rixa, Wollnik Bernd, Yan Huifang, Zackai Elaine H, Zampino Giuseppe, Campeau Philippe, Bhoj Elizabeth
Abstract excerpt
There has been one previous report of a cohort of patients with variants in Chromodomain Helicase DNA-binding 3 (CHD3), now recognized as Snijders Blok-Campeau syndrome. However, with only three previously-reported patients with variants outside the ATPase/helicase domain, it was unclear if variants outside of this domain caused a clinically similar phenotype. We have analyzed 24 new patients with CHD3 variants,...
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