Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
Allen N. Lamb; Jill A. Rosenfeld; Nicholas J. Neill; Michael E. Talkowski; Ian Blumenthal; Santhosh Girirajan; Debra Keelean-Fuller; Zheng Fan; Jill Pouncey; Cathy Stevens; Loren Mackay-Loder; Deborah Terespolsky; Patricia I. Bader; Kenneth Rosenbaum; Stephanie E. Vallee; John B. Moeschler; Roger Ladda; Susan Sell; Judith Martin; Shawnia Ryan; Marilyn C. Jones; Rocio Moran; Amy Shealy; Suneeta Madan-Khetarpal; Juliann McConnell; Urvashi Surti; Andrée Delahaye; Bénédicte Heron-Longe; Eva Pipiras; Brigitte Benzacken; Sandrine Passemard; Alain Verloes; Bertrand Isidor; Cedric Le Caignec; Gwen M. Glew; Kent E. Opheim; Maria Descartes; Evan E. Eichler; Cynthia C. Morton; James F. Gusella; Roger A. Schultz; Blake C. Ballif; Lisa G. Shaffer
- 作者Allen N. Lamb; Jill A. Rosenfeld; Nicholas J. Neill; Michael E. Talkowski; Ian Blumenthal; Santhosh Girirajan; Debra Keelean-Fuller; Zheng Fan; Jill Pouncey; Cathy Stevens; Loren Mackay-Loder; Deborah Terespolsky; Patricia I. Bader; Kenneth Rosenbaum; Stephanie E. Vallee; John B. Moeschler; Roger Ladda; Susan Sell; Judith Martin; Shawnia Ryan; Marilyn C. Jones; Rocio Moran; Amy Shealy; Suneeta Madan-Khetarpal; Juliann McConnell; Urvashi Surti; Andrée Delahaye; Bénédicte Heron-Longe; Eva Pipiras; Brigitte Benzacken; Sandrine Passemard; Alain Verloes; Bertrand Isidor; Cedric Le Caignec; Gwen M. Glew; Kent E. Opheim; Maria Descartes; Evan E. Eichler; Cynthia C. Morton; James F. Gusella; Roger A. Schultz; Blake C. Ballif; Lisa G. Shaffer
- 卷第33卷
- 期第4期
- 印刷ISSN1059-7794
- 电子ISSN1098-1004
- 文件大小474.70KB
- 发表时间2012
- DOI10.1002/humu.22037
- 页码728-740