Achondrogenesis.
In this issue of Pediatric and Developmental Pathology, Aigner and colleagues report a detailed investigation of cartilage matrix changes in a 14-week fetus with achondrogenesis type IA. The changes reported differ from matrix alterations observed in achondrogenesis types IB or II and provide insight into the phenotypic and genotypic differences within this group of skeletal dysplasias.
Kapur
Raj P
RP
Department of Laboratories, Children's Hospital and Regional Medical Center, Seattle, WA 98105, USA. raj.kapur@seattlechildrens.org
D002356:Cartilage / Q000002:abnormalities*; D019902:Chondrocytes / Q000473:pathology / Q000502:physiology; D020219:Chondrogenesis / Q000235:genetics; D004252:DNA Mutational Analysis; D006801:Humans; D009154:Mutation; D010009:Osteochondrodysplasias / Q000145:classification / Q000235:genetics / Q000473:pathology*; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000235:genetics / Q000473:pathology; D013796:Thanatophoric Dysplasia / Q000145:classification / Q000235:genetics / Q000473:pathology