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

doi:10.1016/j.gene.2016.01.003

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Article

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

Gene - 10 Sept 2016

Hall J G

Abstract excerpt

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)....

Topics

Autopsy
Exhumation
Gene Expression
Genes, Lethal
Genetic Association Studies
History, 20th Century
Humans
Infant, Newborn
Kruppel-Like Transcription Factors
Male
Mutation
Nerve Tissue Proteins
Pallister-Hall Syndrome
Zinc Finger Protein Gli3

Source

Open in PubMed

Identifiers

PMID: 26768579
DOI: 10.1016/j.gene.2016.01.003

Genes

GLI3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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