Background
Smith-Magenis Syndrome (SMS) is a genetic syndrome caused by mutations in the RAI1 gene or deletions of the 17p11.2 chromosome.…
The goal of this study is to establish a database of pediatric patients with early-onset obesity who have been phenotypically well-characterized…
Researchers at Baylor College of Medicine in collaboration with the University of North Carolina are conducting an international study on obsessive-…
A study on natural history and molecular mechanisms of neurodevelopmental and neuropsychiatric disorders, including EBF3-related Hypotonia, Ataxia,…
The investigators at the Department of Neurology at Baylor College of Medicine are actively recruiting patients who died due to Sudden Unexplained…
Newborn babies with seizures requiring drug treatment, and for whom routine blood and imaging tests fail to reveal an underlying cause, may qualify…
The purpose of this study is to create a specimen (blood, tissue, and urine) repository devoted to the study of RASopathies. The goal is to better…
This study aims to find new genes or genetic changes associated with ET by looking at affected families.
The purpose of this study is to understand the abnormalities of bone in achondroplasia.
We are studying the family histories of individuals diagnosed with LSDs to determine if there is a link between LSDs and PD.