Novel pathogenic ACAN variants in non-syndromic short stature patients

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature Osteoarthritis

Lindsay Gleghorn, Raj Ramesar, Peter Beighton et al. · The American Journal of Human Genetics · 2005 · 163 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A Missense Mutation in the Aggrecan C-type Lectin Domain Disrupts Extracellular Matrix Interactions and Causes Dominant Familial Osteochondritis Dissecans

Eva‐Lena Stattin, Fredrik Wiklund, Karin Lindblom et al. · The American Journal of Human Genetics · 2010 · 159 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

A Recessive Skeletal Dysplasia, SEMD Aggrecan Type, Results from a Missense Mutation Affecting the C-Type Lectin Domain of Aggrecan

Stuart W. Tompson, Barry Merriman, Vincent Funari et al. · The American Journal of Human Genetics · 2008 · 148 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Short Stature, Accelerated Bone Maturation, and Early Growth Cessation Due to Heterozygous Aggrecan Mutations

Ola Nilsson, Michael H. Guo, Nancy Dunbar et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 137 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17