Disease: Metatropic dwarfism
- 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
- 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
- Novel TRPV4 Pathogenic Variant in Severe Metatropic Skeletal Dysplasia: A Case Report
- Occipitocervical fusion in skeletal dysplasia: a new surgical technique
- 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
- Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia
- The Management of Kyphosis in Metatropic Dysplasia