Yuri A Zarate, Constance L Smith-Hicks, Carol Greene, Mary-Alice Abbott, Victoria M Siu, Amy R U L Calhoun, Arti Pandya, Chumei Li, Elizabeth A Sellars, Julie Kaylor, Katherine Bosanko, Louisa Kalsner, Alice Basinger, Anne M Slavotinek, Hazel Perry, Margarita Saenz, Marta Szybowska, Louise C Wilson, Ajith Kumar, Caroline Brain, Meena Balasubramanian, Holly Dubbs, Xilma R Ortiz-Gonzalez, Elaine Zackai, Quinn Stein, Cynthia M Powell, Samantha Schrier Vergano, Allison Britt, Angela Sun, Wendy Smith, E Martina Bebin, Jonathan Picker, Amelia Kirby, Hailey Pinz, Hannah Bombei, Sonal Mahida, Julie S Cohen, Ali Fatemi, Hilary J Vernon, Rebecca McClellan, Leah R Fleming, Brittney Knyszek, Michelle Steinraths, Cruz Velasco Gonzalez, Anita E Beck, Katie L Golden-Grant, Alena Egense, Aditi Parikh, Chantalle Raimondi, Brad Angle, William Allen, Suzanna Schott, Adi Algrabli, Nathaniel H Robin, Joseph W Ray, David B Everman, Michael J Gambello, Wendy K Chung
SATB2-associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted to case reports and small series without in-depth phenotypic characterization or genotype-phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals with a molecularly confirmed diagnosis of SAS were referred after clinical diagnostic testing...
February 13, 2018: American Journal of Medical Genetics. Part A