Open AccessHaploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
Author(s) -
Allen N. Lamb,
Jill A. Rosenfeld,
Nicholas J. Neill,
Michael E. Talkowski,
Ian Blumenthal,
Santhosh Girirajan,
Debra Keelean-Fuller,
Zheng Fan,
Jill Pouncey,
Cathy A. Stevens,
Loren Mackay-Loder,
Deborah Terespolsky,
Patricia I. Bader,
Kenneth N. Rosenbaum,
Stephanie E. Vallee,
John B. Moeschler,
Roger L. Ladda,
Susan K. Sell,
Judith M. Martin,
S. Noyce Ryan,
Marilyn C. Jones,
Rocio Moran,
Amy Shealy,
Suneeta MadanKhetarpal,
Juliann McConnell,
Urvashi Surti,
Andrée Delahaye,
Bénédicte HéronLonge,
Eva Pipiras,
Brigitte Benzacken,
Sandrine Passemard,
Alain Verloes
Publication year - 2012
Publication title -
carolina digital repository (university of north carolina at chapel hill)
Language(s) - English
DOI - 10.17615/acnn-yv48
Subject(s) - haploinsufficiency , global developmental delay , psychology , genetics , biology , gene , phenotype