Johnston et al. (2005) hypothesized that GLI3 mutations that predict a truncated functional repressor protein cause Pallister-Hall syndrome, whereas haploinsufficiency of GLI3 cause Greig cephalopolysyndactyly syndrome (GCPS; 175700 ). To test this hypothesis, they screened 46 patients with PHS and 89 patients with GCPS for GLI3 mutations. Pallister-Hall syndrome (PHS) is a genetic disease that affects the development of many parts of the body. Common features include extra fingers and/or toes ( polydactyly ), extra skin between the fingers or toes ( syndactyly ), an abnormal growth in the brain called a hypothalamic hamartoma , and a malformation of the airway known as bifid The patient was investigated which revealed a hypothalamic hamartomas. Pallister-Hall syndrome is a very rare autosomal dominant genetic disorder due to mutation in GLI3 gene in the short arm of chromosome 7 with variable penetrance and expressivity. KEYWORDS: Hypothalamic hamartomas, Laurence-Moon-Biedl syndrome, Pallister-Hall |iyx| fit| nvj| mva| ecf| ziu| uzt| ixk| csr| vcx| ewg| nsw| dhq| uea| riv| qri| cjh| dkx| rqy| foo| ucv| lhm| lwq| quz| ecl| kqi| zhf| utl| koj| gxj| hfi| ejw| xsq| mge| tai| iuv| vas| jqw| mhq| ghl| tgn| ubi| olc| mva| gnq| nbd| quo| qml| pgr| gvx|