J. Spranger

Kniest and Stickler dysplasia phenotypes caused by collagen type II gene (COL2A1) defect

Andreas Winterpacht, Matthias Hilbert, Ulrike Schwarze et al. · Nature Genetics · 1993 · 186 citations

Stickler Dysplasia Phenotypes, Fibrosis, Mendelian Disorder +9

Severely Incapacitating Mutations in Patients with Extreme Short Stature Identify RNA-Processing Endoribonuclease RMRP as an Essential Cell Growth Regulator

Christian T. Thiel, Denise Horn, Bernhard Zabel et al. · The American Journal of Human Genetics · 2005 · 135 citations · Full text

Developmental Biology, Genetic Disorder, Medicine +7

Hypochondroplasia: Clinical and Radiological Aspects in 39 cases

Bryan D. Hall, J. Spranger · Radiology · 1979 · 103 citations

Thumb Hypoplasia, Medicine, Surgical Pathology +14

A novel mutation in FGFR-3 disrupts a putative N-glycosylation site and results in hypochondroplasia

Andreas Winterpacht, Katja Hilbert, Christiane Stelzer et al. · Physiological Genomics · 2000 · 66 citations

Cerebral spinal fluid flow, venous drainage and spinal cord compression in achondroplastic children: impact of magnetic resonance findings for decompressive surgery at the cranio-cervical junction

K. Brühl, Peter Stoeter, Beate Wietek et al. · European Journal of Pediatrics · 2001 · 58 citations

Achondroplastic Children, Spinal Cord Injury, Pediatric Neurosurgery +9