PHENOTYPE AND ETIOLOGY OF PALLISTER/HALL SYNDROME

该项目面向临床， Pallister-Hall综合征患者的分子特征 和相关疾病。在本方案中，我们进行临床 表征，包括放射学和磁成像，临床 检查、面谈、行为和精神评估， 气道成像和其他研究。目标是记录 PHS的自然历史和表现力范围。另外我们 正在招募患有与PHS相关疾病的患者， 或者因为它们是等位基因，或者它们具有表型 重叠分子表征旨在定义 导致PHS和相关疾病的突变。具体到如何 这些突变与特定的表型效应有关， 正常和突变GLI 3的生物学效应。

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.