Pallister–Hall syndrome has gone the way of modern medical genetics. Issue 4 (25th November 2014)

• Record Type: Journal Article
• Authors: Hall, Judith G.
• Is Part Of: American journal of medical genetics. Volume 166:Issue 4(2014)
• Page Start: 414
• Page End: 418
• Publication Date: 2014-11-25
• Subjects: Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.31419
• Languages: English
• ISSNs: 1552-4868

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmgc31419-sec-0001" sec-type="section"> <p>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, <italic>GLI3</italic> are also known to be involved in several other disorders. Genotype/phenotype correlations have led to fine mapping of <italic>GLI3</italic> and the recognition that PHS is caused by dominant negative mutations in the middle third of the gene. © 2014 Wiley Periodicals, Inc.</p> </sec> </abstract>