J Spranger

Recessively inherited multiple epiphyseal dysplasia with normal stature, club foot, and double layered patella caused by a DTDST mutation.

A Superti‐Furga, Luitgard M. Neumann, T Riebel et al. · PubMed · 1999 · 139 citations · Full text

Club Foot, Hip Dysplasia, Developmental Biology +12

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Gail C. Jackson, Lauréane Mittaz‐Crettol, Jacqueline Taylor et al. · Human Mutation · 2011 · 125 citations · Full text

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

Andreas Zankl, Luitgard M. Neumann, J. Ignatius et al. · American Journal of Medical Genetics Part A · 2005 · 64 citations

DYSPLASIA SPONDYLOEPIPHYSARIA CONGENITA

J Spranger, H. ‐R. Wiedemann · The Lancet · 1966 · 50 citations

Genetic Disorder, Dysplasia Spondyloepiphysaria Congenita, Genetics +4

Pattern recognition in bone dysplasias.

J Spranger · PubMed · 1985 · 50 citations

Bone Disease, Developmental Anomaly, Bone Imaging +14