• A mutation in TRPV4 results in altered chondrocyte calcium signaling in severe metatropic dysplasia
• Accelerated osteoblastic differentiation in patient-derived dental pulp stem cells carrying a gain-of-function mutation of TRPV4 associated with metatropic dysplasia
• Anesthetic Implications of a Patient With Kniest Dysplasia and Mitochondrial Disease: A Case Report
• Anesthetic management of a patient with metatropic dysplasia
• Autosomal Dominant <em>TRPV4</em> Disorders
• Characteristic Diagnostic Clues of Metatropic Dysplasia: The Lumbothoracic Humpback with Dumbbell Appearance of the Long Bones
• Impaired neurite development and mitochondrial dysfunction associated with calcium accumulation in dopaminergic neurons differentiated from the dental pulp stem cells of a patient with metatropic dysplasia
• Metatrophic dysplasia: a case report, etiological considerations and prevalence
• Metatropic dysplasia in a girl with c.1811_1812delinsAT mutation in exon 11 of the TRPV4 gene not previously reported
• Metatropic dysplasia in third trimester of pregnancy and a novel causative variant in the TRPV4 gene
• Metatropic dysplasia is associated with increased fracture risk
• Metatropic Dysplasia of Nonlethal Variant in a Chinese Child - A Case Report
• Metatropic Dysplasia with a Novel Mutation in TRPV4
• Metatropic dysplasia-a skeletal dysplasia with challenging airway and other anesthetic concerns
• Mild metatropic dysplasia: emphasis on the magnetic resonance imaging of articular cartilage thickening
• Natural history of TRPV4-Related disorders: From skeletal dysplasia to neuromuscular phenotype
• Novel <em>de</em><em>novo TRPV4</em> mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation
• Novel <em>TRPV4</em> variant causes a severe form of metatropic dysplasia
• Novel denovo TRPV4 mutation identified in a Chinese family with metatropic dysplasia inhibits chondrogenic differentiation
• Novel gain-of-function mutation of <em>TRPV4</em> associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia
• Novel gain-of-function mutation of TRPV4 associated with accelerated chondrogenic differentiation of dental pulp stem cells derived from a patient with metatropic dysplasia
• Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
• Occipitocervical fusion in skeletal dysplasia: a new surgical technique
• Parastremmatic dwarfism
• Patient-derived skeletal dysplasia induced pluripotent stem cells display abnormal chondrogenic marker expression and regulation by BMP2 and TGFβ1
• Phenotypic variability of TRPV4 related neuropathies
• Prenatal diagnosis of metatropic dysplasia: beware of the pseudo-bowing sign
• Sleep-disordered breathing and its management in children with rare skeletal dysplasias
• Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia
• The Management of Kyphosis in Metatropic Dysplasia
• Thrombocytosis in an infant with a <em>TRPV4</em> mutation: a case report
• Trends in Serum Cytokine Expression in Pediatric Skeletal Dysplasia
• TRPV4-mediated Ca²⁺ deregulation causes mitochondrial dysfunction via the AKT/α-synuclein pathway in dopaminergic neurons