Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report.

Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes. Am J Hum Genet (1999) 1.88

The phenotypic spectrum of COL2A1 mutations. Hum Mutat (2005) 1.85

Stickler syndrome: clinical characteristics and diagnostic criteria. Am J Med Genet A (2005) 1.04

Spondyloperipheral dysplasia is caused by truncating mutations in the C-propeptide of COL2A1. Am J Med Genet A (2004) 1.03

A specific collagen type II gene (COL2A1) mutation presenting as spondyloperipheral dysplasia. Am J Med Genet (1996) 1.03

Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Arch Ophthalmol (1995) 1.02

Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies. Hum Mutat (2015) 1.01

The spinal manifestations of Stickler's syndrome. Spine (Phila Pa 1976) (1999) 1.01

Further heterogeneity within lethal neonatal short-limbed dwarfism: the platyspondylic types. J Pediatr (1979) 1.00

Czech dysplasia metatarsal type: another type II collagen disorder. Eur J Hum Genet (2007) 1.00

Mechanism and regulation of the nonsense-mediated decay pathway. Nucleic Acids Res (2016) 0.99

Vitreoretinopathy with phalangeal epiphyseal dysplasia, a type II collagenopathy resulting from a novel mutation in the C-propeptide region of the molecule. J Med Genet (2002) 0.95

Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A (2005) 0.95

Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1. Am J Med Genet A (2011) 0.94

Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet (2004) 0.94

Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagen. Br J Ophthalmol (2007) 0.88

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation. Am J Med Genet A (2012) 0.81

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype. Eur J Hum Genet (2015) 0.81

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report. Orphanet J Rare Dis (2011) 0.79

Identification of one novel mutation in the C-propeptide of COL2A1 in a Chinese family with spondyloperipheral dysplasia. Gene (2013) 0.78