Disease: Mental retardation contractural arachnodactyly
- A 2.84 Mb deletion at 21q22.11 in a patient clinically diagnosed with Marden-Walker syndrome
- Anaesthetic management of two paediatric patients with Hecht-Beals syndrome
- Beals syndrome (congenital contractural arachnodactyly): prenatal ultrasound findings and molecular analysis
- 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
- Long-term survival in a child with severe congenital contractural arachnodactyly, autism and severe intellectual disability
- Probable Marden-Walker syndrome: evidence for autosomal recessive inheritance
- Shprintzen-Goldberg Syndrome
- The C.C.A. syndrome (congenital contractural arachnodactyly): a new differential syndrome for Marfan's syndrome and homocystinuria
- The Genetic Epidemiology of Pediatric Pulmonary Arterial Hypertension
- The spectrum of arthrogryposis in 33 chinese children
- van den Ende-Gupta syndrome of blepharophimosis, arachnodactyly, and congenital contractures: clinical delineation and recurrence in brothers