Perrault Syndrome Latest Advances

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

Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature review.

Journal: Journal of applied genetics

Published: October 27, 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

Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics

Published: June 27, 2023

Generation of the human induced pluripotent stem cell line PUMCi005-A from a patient with Perrault syndrome.

Journal: Stem cell research

Published: April 25, 2023