Achondrogenesis type IA (Houston-Harris): A still-unresolved molecular phenotype

Pediatric and Developmental Pathology

Volumn 10, Issue 4, 2007, Pages 328-334

  Aigner, Thomas ^a   Rau, Tilman ^b   Niederhagen, Manuel ^a   Zaucke, Frank ^c   Schmitz, Markus ^c   Pöhls, Uwe ^d   Stöss, Helmut ^e   Rauch, Anita ^b   Thiel, Christian T ^b  

^a Institute of Pathology   (Germany)

^b Department of Pathology ^*  (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^e Institute of Pathology   (Germany)

Author keywords

Cartilage; Chondrogenesis; Development; Skeleton

Indexed keywords

COLLAGEN TYPE 10; ANION TRANSPORT PROTEIN; CARRIER PROTEIN; COL2A1 PROTEIN, HUMAN; COLLAGEN TYPE 2; SCLEROPROTEIN; SLC26A2 PROTEIN, HUMAN; UNCLASSIFIED DRUG;

ABDOMINAL DISTENSION; ACHONDROGENESIS TYPE 1A; ARTICLE; AUTOPSY; BONE MALFORMATION; CARTILAGE MATRIX; CASE REPORT; CELL VACUOLE; CHONDRODYSPLASIA; CHOROID PLEXUS; ENCHONDRAL OSSIFICATION; FEMALE; FETUS HYDROPS; HISTOCHEMISTRY; HUMAN; HYDROCEPHALUS; IMMUNOHISTOCHEMISTRY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; ROUGH ENDOPLASMIC RETICULUM; ABORTION; ADULT; CARTILAGE CELL; ENCHONDROMATOSIS; FLUORESCENT ANTIBODY TECHNIQUE; GENETICS; GESTATIONAL AGE; GROWTH PLATE; METABOLISM; PATHOLOGY; PHENOTYPE; PREGNANCY; ULTRASTRUCTURE;

ABORTION, EUGENIC; ADULT; ANION TRANSPORT PROTEINS; CHONDROCYTES; COLLAGEN TYPE II; COLLAGEN TYPE X; DNA MUTATIONAL ANALYSIS; ENCHONDROMATOSIS; ENDOPLASMIC RETICULUM, ROUGH; EXTRACELLULAR MATRIX PROTEINS; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; GESTATIONAL AGE; GROWTH PLATE; HUMANS; MEMBRANE TRANSPORT PROTEINS; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; PREGNANCY;

EID: 34548578967     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/06-07-0134.1     Document Type: Article

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