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.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000009-05
Application #
6108953
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
5
Fiscal Year
1998
Total Cost
Indirect Cost
Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code
Ng, David; Johnston, Jennifer J; Turner, Joyce T et al. (2004) Gonadal mosaicism in severe Pallister-Hall syndrome. Am J Med Genet A 124:296-302
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Ondrey, F; Griffith, A; Van Waes, C et al. (2000) Asymptomatic laryngeal malformations are common in patients with Pallister-Hall syndrome. Am J Med Genet 94:64-7

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