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Last Updated: 10/31/2025
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Found 57 publications
A Case Report of Auditory Neuropathy Due to TWNK Gene Mutations.
Journal: The journal of international advanced otology
Published: February 12, 2025
Novel compound heterozygous mutations in the LARS2 gene in a Chinese family with hearing loss.
Journal: Neurogenetics
Published: November 28, 2024
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Journal: American journal of human genetics
Published: October 09, 2024
Detailed characterization of auditory neuropathy in perrault syndrome with TWNK variants.
Journal: Auris, nasus, larynx
Published: July 08, 2024
Exome sequencing reveals pathogenic mutations in the LARS2 and HSD17B4 genes associated with Perrault syndrome and D-bifunctional protein deficiency in Moroccan families.
Journal: Molecular biology reports
Published: April 25, 2024
Perrault syndrome: The Way Forward After Genetic Counselling?
Journal: BMJ case reports
Published: March 29, 2024
Analysis of perrault syndrome caused by pathogenic variants in LARS2 and HARS2 genes
Journal: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
Published: January 08, 2024
A homozygous mutation of TWNK identified in premature ovarian insufficiency warns of late-onset perrault syndrome.
Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: December 29, 2023
Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.
Journal: Clinical genetics
Published: December 29, 2023
Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree
Genetic analysis of a child with D bifunctional protein deficiency born to a consanguineous pedigree
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: June 27, 2023
An encounter with the mild side of LARS2-associated Perrault syndrome and its implications on the diagnostic odyssey.
Journal: European journal of human genetics : EJHG
Published: December 31, 2022
Last Updated: 10/31/2025