Disease: Arthrogryposis ophthalmoplegia retinopathy
- A mutation in F-actin polymerization factor suppresses the distal arthrogryposis type 5 PIEZO2 pathogenic variant in Caenorhabditis elegans
- A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D
- Arthrogryposis multiplex congenita, craniofacial, and ophthalmological abnormalities and normal intelligence: a new syndrome?
- Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis
- Autogenous bone graft for expansion thoracoplasty in Adam Robert Wright syndrome: a case report and review
- Distal arthrogryposes type 5 caused by PIEZO2 gene variation
- Distal Arthrogryposis type 5 in an Italian family due to an autosomal dominant gain-of-function mutation of the PIEZO2 gene
- Juvenile macular dystrophy and forearm pronation-supination restriction presenting with features of distal arthrogryposis type 5
- Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
- PIEZO2-related distal arthrogryposis type 5: Longitudinal follow-up of a three-generation family broadens phenotypic spectrum, complications, and health surveillance recommendations for this patient group
- The Novel Compound Heterozygous Mutations of <em>ECEL1</em> Identified in a Family with Distal Arthrogryposis Type 5D
- The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D