PHENOTYPE AND ETIOLOGY OF PALLISTER/HALL SYNDROME

该项目面向临床和 Pallister-Hall综合征患者的分子特征 以及相关的疾病。在这个方案中，我们执行临床 特征包括放射学和磁学成像，临床 检查，面谈，行为和精神评估， 呼吸道成像和其他研究。我们的目标是记录 小灵通的自然历史和表现范围。此外，我们 正在招募患有与小灵通相关的障碍的患者， 要么是因为已知它们是等位基因，要么是因为它们具有表型 重叠。分子特征试图定义的范围 导致小灵通及相关疾病的突变。具体地说，是如何 这些突变与特定的表型效应和细胞有关 正常和突变的GLI3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.