The early history of Pallister-Hall syndrome-Buried treasure of a sort

Gene
J G Hall

Abstract

Pallister-Hall syndrome was initially recognized under fairly unique circumstances involving exhumation of the very first case. The first two cases had dramatic and unusual features including a hypothalamic hamartoblastoma, imperforate anus, an unusual type of polydactyly with the extra digit being central, hypopituitarism with secondary hypoadrenalism, and lethality after birth (probably due to hypoadrenalism). Within a short time frame, four additional cases were identified. As the full spectrum and variability of anomalies was recognized, it became clear that it was not such a rare disorder. Shortly after familial cases were recognized, the responsible gene was identified at GLI3. However, since other different conditions also involved GLI3, elaborating the domains of the gene and the types of mutations needed to be defined in order to have a clear correlation of the genotype-phenotype relations.

References

Oct 2, 1996·American Journal of Medical Genetics·L G BieseckerA Verloes
Jun 3, 2006·Journal of Medical Genetics·L G Biesecker
Nov 27, 2014·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Judith G Hall

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Citations

Jun 25, 2016·Canadian Journal of Anaesthesia = Journal Canadien D'anesthésie·Molly Kraus, Michelle Diu
Feb 23, 2017·Clinical Genetics·M M Al-QattanF S Alkuraya
Apr 22, 2017·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·C DunhamM McKinnon
Nov 30, 2018·Journal of Medical Case Reports·Femia Hayek
Mar 17, 2017·Annual Review of Genomics and Human Genetics·Judith G Hall

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