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PHENOTYPE AND ETIOLOGY OF PALLISTER/HALL SYNDROME

PHENOTYPE AND ETIOLOGY OF PALLISTER/HALL SYNDROME
帕利斯特/霍尔综合征的表型和病因
批准号：
6290269
负责人：
LESLIE G BIESECKER
金额：
$0.0万
依托单位：
NATIONAL HUMAN GENOME RESEARCH INSTITUTE
依托单位国家：
美国
项目类别：
财政年份：
--
资助国家：
美国
项目状态：
未结题
起止时间：
至
来源：
https://reporter.nih.gov/project-details/6290269
关键词：
child (0-11) clinical research congenital brain disorder congenital gastrointestinal disorder congenital skeletal disorder developmental genetics endocrine disorder family genetics gene expression genetic disorder human genetic material tag human subject human tissue hypopituitarism linkage mapping pathologic process phenotype syndrome

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英文摘要
The project is oriented towards the clinical and molecular characterization of patients with Pallister-Hall syndrome and related disorders. In this protocol we perform clinical characterization including radiologic and magnetic imaging, clinical examination, interviews, behavioral and psychiatric evaluation, airway imaging, and other studies. The goal is to document the natural history and range of expressivity of PHS. In addition, we are recruiting patients who have disorders that are related to PHS, either because they are known to be allelic or they have phenotypic overlap. The molecular characterization seeks to define the range of mutations that cause PHS and related disorders. Specifically, how those mutations relate to specific phenotypic effects and to the cell biologic effects of normal and mutant GLI3. - Human Subjects & Human Subjects: Interview, Questionaires, or Surveys Only
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