Article

Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient

2022-11-28

Abstract excerpt

<h4>Background: </h4> Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that may affect multiple systems of the body. Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by autosomal recessively mutations in bestrophin 1 (BEST1) gene. So far, we have not retrieved any case report of the same patient with both NF1 and BEST1 gene mutations. Case presentation An 8-year-old f...

Topics

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

Identifiers and source

Literature Corpus work: 58797806-b370-54d6-8f4b-cf0b2b4005be
DOI: 10.21203/rs.3.rs-2276370/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patientDOI 10.21203/rs.3.rs-2276370/v1Read

Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.Semantic proximity Read

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.Semantic proximity Read

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathySemantic proximity Read

Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.Semantic proximity Read

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.Semantic proximity Read

Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.Semantic proximity Read

Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.Semantic proximity Read

Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.Semantic proximity Read

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.Semantic proximity Read

Incidental finding of a pathogenic mosaicism in the NF1 gene detected by near infrared fundus imaging - a case report.Semantic proximity Read

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.Semantic proximity Read

Neurofibromatosis Type I: Genetics and Clinical ManifestationsSemantic proximity Read