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Targeted gene(s)/phenotype under study
Gene: KBG syndrome
Abstract
KBG is a pretty novel disease entity characterized by developmental delay, short stature, dysmorphic facial features, and skeletal anomalies. Literature data about the evolution of the clinical phenotype over time are limited. We have collected several patients with KBG syndrome and followed them over time. The aim of this study is to collect clinical and molecular data of patients with KBG syndrome in order to better define the main clinical features from childhood into adulthood and to establish a genotype-phenotype correlation.
Coordinating clinicians /researchers
- Prof.ssa Alessandra Renieri, MD, Ph.D
- Dott. ssa Anna Maria Pinto,MD,Ph.D
Contact:
Institution
UOC Genetica Medica,
Policlinico Le Scotte
53100 Siena – Italy
Specific requirements beyond clinical data and genotype data sharing
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project? No