Article

New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuroma

2020-12-14

Abstract excerpt

<h4>Background: </h4> Choroidal ganglioneuroma is an extremely rare tumor, and there is little knowledge regarding its pathogenesis. We aimed to investigate the phenotypic and genetic alterations in one sporadic patient with a rare case of bilateral choroidal ganglioneuroma. <h4>Methods: </h4>: A 6-year-old boy with histological diagnosis of bilateral ganglioneuroma was recruited for the study. Comprehensive ophth...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: bdd0b001-3906-5213-8f47-64f401a10cc4
DOI: 10.21203/rs.3.rs-32912/v4

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

New PTEN mutation identified in a patient with rare bilateral choroidal ganglioneuromaDOI 10.21203/rs.3.rs-32912/v4Read

Choroid plexus papillomas: advances in molecular biology and understanding of tumorigenesisSemantic proximity Read

Choroid Plexus Carcinoma in an Adult: Genetic Insights from a Unique Case StudySemantic proximity Read

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.Semantic proximity Read

Genetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.Semantic proximity Read

Next-generation sequencing-based clinical diagnosis of choroideremia and comprehensive mutational and clinical analyses.Semantic proximity Read

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.Semantic proximity Read

Ocular Manifestations in Pediatric Tumor Suppressor Gene Mutations: A Case-Based and Literature Review on RB1, NF1, NF2, VHL, and TSCSemantic proximity Read

NONSYNDROMIC RETINITIS PIGMENTOSA WITH BILATERAL RETINAL NEOVASCULARIZATION DUE TO HGSNAT MUTATION.Semantic proximity Read

Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma.Semantic proximity Read

Probable Genetic Association Between Lhermitte-Duclos Disease/Cowden Syndrome and Autism Spectrum Disorder: A Case Report and Literature ComprehensionSemantic proximity Read

Molecular Insight into Medulloblastoma and Central Nervous System Primitive Neuroectodermal Tumor Biology from Hereditary Syndromes: A ReviewSemantic proximity Read

Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature.Semantic proximity Read