• A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome
• A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation
• 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
• Expanding the clinical spectrum and allelic heterogeneity in van den Ende-Gupta syndrome
• Further delineation of van den Ende-Gupta syndrome: Genetic heterogeneity and overlap with congenital heart defects and skeletal malformations syndrome
• 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
• Marden-Walker syndrome--a case report
• Marden-Walker syndrome: case report, nosologic discussion and aspects of counseling
• Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents
• Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes
• Sclerocornea in a patient with van den Ende-Gupta syndrome homozygous for a SCARF2 microdeletion
• The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings
• Two novel variants in SCARF2 gene underlie van den Ende-Gupta syndrome
• Unknown syndrome in two male sibs with hypotonia, ptosis, hand malformations, 2/3 toes syndactyly, and mental retardation
• Unusual manifestation of Marden-Walker syndrome
• Vector control in internal midface distraction using temporary anchorage devices