Pallister-Hall Syndrome Latest Advances
Find the Latest Research About Pallister-Hall Syndrome
Last Updated: 04/28/2026
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Found 182 publications
C-Terminal End of Gli3 Is Critical for Functional Protein Synthesis and Gli3-Dependent Anatomical Development.
Journal: Development, growth & differentiation
Published: September 15, 2025
The molecular characterization of seven novel GLI family zinc finger 3 (GLI3) variants in Chinese families with limb malformations.
Journal: Frontiers in genetics
Published: June 20, 2025
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
Last Updated: 04/28/2026