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Last Updated: 04/25/2025
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Found 18 publications
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.
Journal: Molecular biology reports
Published: January 17, 2024
A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.
Journal: American journal of medical genetics. Part A
Published: August 06, 2022
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
Journal: Frontiers in neurology
Published: October 12, 2021
Neuropsychological assessment of Boucher-Neuhäuser syndrome: A case report.
Journal: The Clinical neuropsychologist
Published: August 30, 2021
Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.
Journal: Ophthalmic genetics
Published: March 02, 2021
Severe chorioretinal atrophy in Boucher-Neuhauser syndrome.
Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
Published: April 08, 2019
CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME.
Journal: Retinal cases & brief reports
Published: July 18, 2018
A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.
Journal: Molecular medicine reports
Published: October 28, 2017
Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.
Journal: European journal of medical genetics
Published: June 13, 2016
Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.
Journal: Journal of neurology
Published: September 18, 2014
Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome.
Journal: Journal of human genetics
Published: August 03, 2014
Last Updated: 04/25/2025