Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exonSATB2frameshift mutation

Further supporting evidence for theSATB2-associated syndrome found through whole exome sequencing

(2015) Yuri A. Zarate et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Severe hypercalcemia following denosumab treatment in a juvenile patient

(2015) Nokitaka Setsu et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Critical hypercalcemia following discontinuation of denosumab therapy for metastatic giant cell tumor of bone

(2015) Nathan Gossai et al.   PEDIATRIC BLOOD & CANCER

Intragenic duplication-A novel causative mechanism for SATB2-associated syndrome

(2014) Agne Liedén et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The role of SATB2 in skeletogenesis and human disease

(2013) Xiaoying Zhao et al.   CYTOKINE & GROWTH FACTOR REVIEWS

Further delineation of the SATB2 phenotype

(2013) Dennis Döcker et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene

(2013) Petcharat Leoyklang et al.   HUMAN GENETICS

Effects of RANK-Ligand Antibody (Denosumab) Treatment on Bone Turnover Markers in a Girl With Juvenile Paget's Disease

(2013) Corinna Grasemann et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Denosumab treatment for fibrous dysplasia

(2012) Alison M Boyce et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

(2011) M. Balasubramanian et al.   JOURNAL OF MEDICAL GENETICS

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome

(2009) Thomy J. de Ravel et al.   European Journal of Medical Genetics

Small Deletions of SATB2 Cause Some of the Clinical Features of the 2q33.1 Microdeletion Syndrome

(2009) Jill A. Rosenfeld et al.   PLoS One