Achondrogenesis type 1B

Journal of Medical Genetics

Volumn 33, Issue 11, 1996, Pages 957-961

  Superti Furga, Andrea ^a  

^a UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN FIBER; COLLAGEN TYPE 2;

ARTICLE; BIOCHEMISTRY; CARTILAGE; CHONDRODYSPLASIA; CHONDROPATHY; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; GENETIC COUNSELING; HISTOLOGY; HUMAN; INCIDENCE; MOLECULAR BIOLOGY; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; RADIOLOGY; SKELETON MALFORMATION;

EID: 0029845660     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.11.957     Document Type: Article

References (16)

1. Fraccaro M. Contributo allo studio del mesenchima osteopoietico - l'acondrogenesi. Folia Hered Pathol (Milano) 1952;1:190-207.
2. Parenti GC. La anosteogenesi. Pathologica (Genova) 1936; 28:447-62.
3. Grebe H. Die Achondrogenesis: ein einfachrezessives Erbmerkmal. Folia Hered Pathol (Milano) 1952;2:23-8.
4. Wiedemann HR, Remagen W, Hienz HA, Gorlin RJ, Maroteaux P. Achondrogenesis within the scope of connately manifested generalized skeletal dysplasias. Z Kinderheilkd 1974;116:223-51.
5. Schulte MJ, Lenz W, Vogel M. Letale Achondrogenesis: eine Übersicht über 56 Fälle. Klin Padiatr 1978;191: 327-40.
6. Spranger J, Langer LO, Wiedemann HR. Bone dysplasias - an atlas of constitutional disorders of skeletal development. Stuttgart: Gustav Fischer Verlag, 1974.
7. Yang SS, Brough AJ, Garewal GS, Bernstein J. Two types of heritable lethal achondrogenesis. J Pediatr 1974;85: 796-801.
8. Yang SS, Heidelberger KP, Bernstein J. Intracytoplasmic inclusion bodies in the chondrocytes of type I lethal achondrogenesis. Hum Pathol 1976;7:667-73.
9. Whitley CB, Gorlin RJ. Achondrogenesis: new nosology with evidence of genetic heterogeneity. Radiology 1983; 148:693-8.
10. Eyre DR, Upton MP, Shapiro FD, Wilkinson RH, Vawter GF . Nonexpression of cartilage type II collagen in a case of Langer-Saldino achondrogenesis. Am J Hum Genet 1986;39:52-67.
11. Godfrey M, Hollister DW. Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen. Am J Hum Genet 1988;43:904-13.
12. Vissing H, D'Alessio M, Lee B, Ramirez F, Godfrey M, Hollister DW. Glycine to serine substitution in the triple-helical domain of proα1(11) collagen results in a lethal perinatal form of short-limbed dwarfism. J Biol Chem 1989;264:18265-7.
13. Spranger J, Winterpacht A, Zabel B. The type II collagenopathies: a spectrum of chondrodysplasias. Eur J Pediatr 1994;153:56-65.
14. Borochowitz Z, Lachman R, Adornian GE, Spear G, Jones K, Rimoin DL. Achondrogenesis type I: delineation of further heterogeneity and identification of two distinct subgroups. J Pediatr 1988;112:23-31.
15. van der Harten HJ, Brons JTJ, Dijkstra PF, et al. Achondrogenesis-hypochondrogenesis: the spectrum of chondrogenesis imperfecta. Pediatr Pathol 1988;8:571-97.
16. Urso FP, Urso MJ. Achondrogenesis in two sibs. Birth Defects 1974;10:10-17.