PHENOTYPE AND ETIOLOGY OF PALLISTER/HALL SYNDROME

该项目旨在研究Pallister-Hall综合征及相关疾病患者的临床和分子特征。在该方案中，我们进行临床表征，包括放射学和磁成像，临床检查，访谈，行为和精神评估，气道成像和其他研究。目的是记录PHS的自然历史和表现力范围。此外，我们正在招募患有与PHS相关疾病的患者，因为他们已知是等位基因或他们有表型重叠。分子表征旨在确定导致PHS和相关疾病的突变范围。具体来说，这些突变如何与特定的表型效应以及正常和突变GLI 3的细胞生物学效应相关。- 人类受试者和人类受试者：仅访谈、问卷调查或调查

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