Premium
Pallister–Hall syndrome has gone the way of modern medical genetics
Author(s) -
Hall Judith G.
Publication year - 2014
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.31419
Subject(s) - genetics , phenotype , gli3 , gene , genotype , identification (biology) , linkage (software) , biology , genotype phenotype distinction , medical genetics , mutation , genetic linkage , gene expression , botany , repressor
The Pallister–Hall syndrome (PHS) was identified and described as a specific entity in the late 1970s and early 1980s. Subsequently, many patients were reported expanding the phenotype. Familial cases demonstrated variability and lead to linkage and then gene identification. Mutations in the responsible gene, GLI3 are also known to be involved in several other disorders. Genotype/phenotype correlations have led to fine mapping of GLI3 and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene. © 2014 Wiley Periodicals, Inc.