Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development

Birth prevalence rates of skeletal dysplasias

(2010) Claude Stoll et al.   CLINICAL GENETICS

Lethal Skeletal Dysplasia in Mice and Humans Lacking the Golgin GMAP-210

(2010) Patrick Smits et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lack of Cyclophilin B in Osteogenesis Imperfecta with Normal Collagen Folding

(2010) Aileen M. Barnes et al.   NEW ENGLAND JOURNAL OF MEDICINE

PPIB Mutations Cause Severe Osteogenesis Imperfecta

(2009) Fleur S. van Dijk et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe Osteogenesis Imperfecta in Cyclophilin B–Deficient Mice

(2009) Jae Won Choi et al.   PLoS Genetics

The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus

(2008) Ariane Dimitrov et al.   HUMAN MOLECULAR GENETICS

Dyggve-Melchior-Clausen syndrome: Chondrodysplasia resulting from defects in intracellular vesicle traffic

(2008) A. B. Osipovich et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA