• A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome
• A 24-year-Old Male with Marden-Walker Syndrome and Epilepsy: Case Report
• Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis
• Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome
• Diagnosis of Van den Ende-Gupta syndrome: Approach to the Marden-Walker-like spectrum of disorders
• Distal arthrogryposis type 5 and PIEZO2 novel variant in a Canadian family
• Familial Gordon syndrome associated with a PIEZO2 mutation
• First transcatheter leadless pacemaker implantation in a pediatric patient with a genetic disease
• Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
• Further Evidence of a Continuum in the Clinical Spectrum of Dominant <em>PIEZO2</em>-Related Disorders and Implications in Cerebellar Anomalies
• Identification of a novel variant of SCARF2 in a Jordanian family with a van den Ende-Gupta Syndrome and literature review
• Inclusion of joint laxity, recurrent patellar dislocation, and short distal ulnae as a feature of Van Den Ende-Gupta syndrome: a case report
• Lethal respiratory course and additional features expand the phenotypic spectrum of PIEZO2-related distal arthrogryposis type 5
• Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes
• Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5
• Mutations in PIEZO2 contribute to Gordon syndrome, Marden-Walker syndrome and distal arthrogryposis: A bioinformatics analysis of mechanisms
• Physical and functional evaluation in Marden-Walker syndrome: case report--review of literature
• Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome
• Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects
• Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome
• Unusual manifestation of Marden-Walker syndrome