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Last Updated: 10/31/2025
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Found 32 publications
Anesthesia and Airway Management in a Child with Frank Ter Haar Syndrome Suspected Difficult Airway Undergoing Cardiac Surgery: A Case Report.
Journal: Anesthesiology and pain medicine
Published: June 08, 2024
Multiple facial angiofibromas: A manifestation of Frank-ter Haar syndrome?
Journal: American journal of medical genetics. Part A
Published: February 02, 2023
Retinal detachment in a child with Frank-ter Haar syndrome.
Journal: Ophthalmic genetics
Published: August 25, 2022
A Novel Cell-Based Model for a Rare Disease: The Tks4-KO Human Embryonic Stem Cell Line as a Frank-Ter Haar Syndrome Model System.
Journal: International journal of molecular sciences
Published: June 29, 2022
The Role of the Disrupted Podosome Adaptor Protein (SH3PXD2B) in Frank-Ter Haar Syndrome.
Journal: Genes
Published: December 05, 2021
Novel SH3PXD2B variant identified by whole-exome sequencing in a Turkish newborn with Frank-Ter Haar Syndrome.
Journal: Clinical dysmorphology
Published: September 20, 2021
The novel zebrafish model pretzel demonstrates a central role for SH3PXD2B in defective collagen remodelling and fibrosis in Frank-Ter Haar syndrome.
Journal: Biology open
Published: November 25, 2020
Anesthetic management of scoliosis operation in a pediatric patient with Frank-ter Haar syndrome: a case report.
Journal: Brazilian journal of anesthesiology (Elsevier)
Published: March 10, 2020
A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.
A Rare Case Report of Frank Ter Haar Syndrome in a Sibling Pair Presenting With Congenital Glaucoma.
Journal: Journal of glaucoma
Published: December 07, 2019
A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.
Journal: European journal of medical genetics
Published: October 02, 2019
Anaesthesia and orphan diseases: difficult tracheal intubation in a child with Frank-ter Haar syndrome.
Journal: European journal of anaesthesiology
Published: June 06, 2018
Significance of the Tks4 scaffold protein in bone tissue homeostasis.
Journal: Scientific reports
Published: May 30, 2018
Last Updated: 10/31/2025