Article
Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.
American journal of medical genetics. Part A - 1 Apr 2018
Zarate Yuri A, Smith-Hicks Constance L, Greene Carol, Abbott Mary-Alice, Siu Victoria M, Calhoun Amy R U L, Pandya Arti, Li Chumei, Sellars Elizabeth A, Kaylor Julie, Bosanko Katherine, Kalsner Louisa, Basinger Alice, Slavotinek Anne M, Perry Hazel, Saenz Margarita, Szybowska Marta, Wilson Louise C, Kumar Ajith, Brain Caroline, Balasubramanian Meena, Dubbs Holly, Ortiz-Gonzalez Xilma R, Zackai Elaine, Stein Quinn, Powell Cynthia M, Schrier Vergano Samantha, Britt Allison, Sun Angela, Smith Wendy, Bebin E Martina, Picker Jonathan, Kirby Amelia, Pinz Hailey, Bombei Hannah, Mahida Sonal, Cohen Julie S, Fatemi Ali, Vernon Hilary J, McClellan Rebecca, Fleming Leah R, Knyszek Brittney, Steinraths Michelle, Velasco Gonzalez Cruz, Beck Anita E, Golden-Grant Katie L, Egense Alena, Parikh Aditi, Raimondi Chantalle, Angle Brad, Allen William, Schott Suzanna, Algrabli Adi, Robin Nathaniel H, Ray Joseph W, Everman David B, Gambello Michael J, Chung Wendy K
Abstract excerpt
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...
Read the complete abstract on PubMed