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Completed
Sleep Abnormalities in Rare Genetic Disorders: AS, RTT, and PW (External Link)
Subjects with AS, RTT or PWS and normal siblings (controls) will be recruited for study participation. Subjects will be recruited from the Rare Disease Clinical Research Network (RDCRN) consortium registries …
Baylor Role: Lead Sponsor
Completed
Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes (External Link)
PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal …
Baylor Role: Collaborator