Pallister-Hall Syndrome Latest Advances

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

Journal: Molecular genetics & genomic medicine

Published: March 13, 2025

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

Journal: European journal of human genetics : EJHG

Published: August 22, 2024

Disconnection of Hypothalamic Hamartoma Through Trans-Sylvian Route in a Patient With Pallister-Hall Syndrome: 2-Dimensional Operative Video.

Journal: Operative neurosurgery (Hagerstown, Md.)

Published: May 25, 2024

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report.

Journal: Heliyon

Published: December 11, 2023

Solitary kidney in a patient with Pallister-Hall syndrome.

Journal: Kidney international

Published: December 03, 2023

Subglottic stenosis associated with Pallister-Hall syndrome.

Journal: Pediatrics international : official journal of the Japan Pediatric Society

Published: October 12, 2023

Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.

Journal: Cureus

Published: April 18, 2023

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

Journal: American journal of medical genetics. Part A

Published: February 28, 2023

Hedgehog-GLI mediated control of renal formation and malformation.

Journal: Frontiers in nephrology

Published: February 28, 2023

Advances in hypothalamic hamartoma research over the past 30 years (1992-2021): a bibliometric analysis.

Journal: Frontiers in neurology

Published: February 28, 2023

Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma.

Journal: Genetics in medicine open

Published: January 17, 2023

Prenatal diagnosis of Pallister-Hall syndrome: ultrasound, magnetic resonance imaging, and three-dimensional reconstructions of phenotypical findings.

Journal: Journal of ultrasound

Published: January 13, 2023

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New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

New Pathogenic Variant in the GLI3 Gene in the First Colombian Patient Associated With Pallister-Hall Syndrome: A Clinical Report.

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

Complete loss of IFT27 function leads to a phenotypic spectrum of fetal lethal ciliopathy associated with altered ciliogenesis.

Disconnection of Hypothalamic Hamartoma Through Trans-Sylvian Route in a Patient With Pallister-Hall Syndrome: 2-Dimensional Operative Video.

Disconnection of Hypothalamic Hamartoma Through Trans-Sylvian Route in a Patient With Pallister-Hall Syndrome: 2-Dimensional Operative Video.

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report.

A novel GLI3 frameshift mutation in a Chinese pedigree with polydactyly: A case report.

Solitary kidney in a patient with Pallister-Hall syndrome.

Solitary kidney in a patient with Pallister-Hall syndrome.

Subglottic stenosis associated with Pallister-Hall syndrome.

Subglottic stenosis associated with Pallister-Hall syndrome.

Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.

Bardet-Biedl Syndrome Presenting With Bifid Epiglottis: A Case Report and Review of Literature.

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

Clinical and molecular heterogeneity of syndromic hypothalamic hamartoma.

Hedgehog-GLI mediated control of renal formation and malformation.

Hedgehog-GLI mediated control of renal formation and malformation.

Advances in hypothalamic hamartoma research over the past 30 years (1992-2021): a bibliometric analysis.

Advances in hypothalamic hamartoma research over the past 30 years (1992-2021): a bibliometric analysis.

Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma.

Mosaic variants detectable in blood extend the clinicogenetic spectrum of GLI3-related hypothalamic hamartoma.

Prenatal diagnosis of Pallister-Hall syndrome: ultrasound, magnetic resonance imaging, and three-dimensional reconstructions of phenotypical findings.

Prenatal diagnosis of Pallister-Hall syndrome: ultrasound, magnetic resonance imaging, and three-dimensional reconstructions of phenotypical findings.