Disease: Spinal muscular atrophy type I with congenital bone fractures
- Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings
- Congenital bone fractures in spinal muscular atrophy: functional role for SMN protein in bone remodeling
- Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome
- Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance
- Muscle-Bone Interactions in Pediatric Bone Diseases
- Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect
- Novel compound heterozygous pathogenic variants in ASCC1 in a Chinese patient with spinal muscular atrophy with congenital bone fractures 2 : Evidence supporting a "Definitive" gene-disease relationship
- Severe lethal spinal muscular atrophy variant with arthrogryposis
- Severe spinal muscular atrophy variant associated with congenital bone fractures
- Spinal muscular atrophy variant with congenital fractures
- Spinal muscular atrophy with congenital fractures: postmortem analysis