Article

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndrome

2024-11-11

Abstract excerpt

Colobomatous microphthalmia is a potentially blinding congenital ocular malformation that can present either in isolation or together with other syndromic features. Despite a strong genetic component to disease, many cases lack a molecular diagnosis. We describe a novel autosomal dominant oculo-vertebral-renal (OVR) syndrome in six independent families characterized by colobomatous microphthalmia, missing vertebra...

Topics

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

Identifiers and source

Literature Corpus work: 1297e33f-3808-585b-9916-9d63377125fc
DOI: 10.1101/2024.11.09.24316578

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndromeDOI 10.1101/2024.11.09.24316578Read

Variants in NR6A1 cause a novel oculo vertebral renal syndromeSemantic proximity Read

Variants in NR6A1 cause a novel oculo-vertebral-renal (OVR) syndromeSemantic proximity Read

Variants in NR6A1 as a cause for congenital renal, vertebral and uterine anomalies.Semantic proximity Read

Variants in<i>NR6A1</i>as a cause for congenital renal, vertebral and uterine anomaliesSemantic proximity Read

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.Semantic proximity Read

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysSemantic proximity Read

PAX6 aniridia syndrome: clinics, genetics, and therapeutics.Semantic proximity Read

Identification of 4 novel human ocular coloboma genes ANK3, BMPR1B, PDGFRA, and CDH4 through evolutionary conserved vertebrate gene analysis.Semantic proximity Read

A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.Semantic proximity Read

Absence of NR2E1 mutations in patients with aniridia.Semantic proximity Read

NR2F1 database: 111 variants and 83 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndromeSemantic proximity Read

[Phenotypic and molecular characterizations of 46,XY disorders of sex development due to variants of NR5A1 gene].Semantic proximity Read