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Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features |
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| Authors: | Lamb Allen N Rosenfeld Jill A Neill Nicholas J Talkowski Michael E Blumenthal Ian Girirajan Santhosh Keelean-Fuller Debra Fan Zheng Pouncey Jill Stevens Cathy Mackay-Loder Loren Terespolsky Deborah Bader Patricia I Rosenbaum Kenneth Vallee Stephanie E Moeschler John B Ladda Roger Sell Susan Martin Judith Ryan Shawnia Jones Marilyn C Moran Rocio Shealy Amy Madan-Khetarpal Suneeta McConnell Juliann Surti Urvashi Delahaye Andrée Heron-Longe Bénédicte Pipiras Eva Benzacken Brigitte Passemard Sandrine Verloes Alain Isidor Bertrand Le Caignec Cedric Glew Gwen M Opheim Kent E Descartes Maria |
| Affiliation: | Signature Genomic Laboratories, PerkinElmer, Inc., Spokane, Washington 99207, USA. |
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| 本文献已被 PubMed 等数据库收录！ | |