Article
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome.
American journal of medical genetics. Part A - 1 Jan 2021
Dyment David A, O'Donnell-Luria Anne, Agrawal Pankaj B, Coban Akdemir Zeynep, Aleck Kyrieckos A, Antaki Danny, Al Sharhan Hind, Au Ping-Yee B, Aydin Hatip, Beggs Alan H, Bilguvar Kaya, Boerwinkle Eric, Brand Harrison, Brownstein Catherine A, Buyske Steve, Chodirker Bernard, Choi Jungmin, Chudley Albert E, Clericuzio Carol L, Cox Gerald F, Curry Cynthia, de Boer Elke, de Vries Bert B A, Dunn Kathryn, Dutmer Cullen M, England Eleina M, Fahrner Jill A, Geckinli Bilgen B, Genetti Casie A, Gezdirici Alper, Gibson William T, Gleeson Joseph G, Greenberg Cheryl R, Hall April, Hamosh Ada, Hartley Taila, Jhangiani Shalini N, Karaca Ender, Kernohan Kristin, Lauzon Julie L, Lewis M E Suzanne, Lowry R Brian, López-Giráldez Francesc, Matise Tara C, McEvoy-Venneri Jennifer, McInnes Brenda, Mhanni Aziz, Garcia Minaur Sixto, Moilanen Jukka, Nguyen An, Nowaczyk Malgorzata J M, Posey Jennifer E, Õunap Katrin, Pehlivan Davut, Pajusalu Sander, Penney Lynette S, Poterba Timothy, Prontera Paolo, Doriqui Maria Juliana Rodovalho, Sawyer Sarah L, Sobreira Nara, Stanley Valentina, Torun Deniz, Wargowski David, Witmer P Dane, Wong Isaac, Xing Jinchuan, Zaki Maha S, Zhang Yeting, Boycott Kym M, Bamshad Michael J, Nickerson Deborah A, Blue Elizabeth E, Innes A Micheil
Abstract excerpt
Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a distinctive facial appearance and deficits in growth and development. There have been over 200 individuals reported with Dubowitz or a "Dubowitz-like" condition, although no single gene has been implicated as responsible for its cause. We have performed exome (ES) or genome sequencing (GS) for 31 individuals clinically diagnosed...
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