The Ehlers-Danlos IV syndrome: Variety in phenotypes;Ehlers-Danlos-syndroom IV: Variatie in fenotypen

Nederlands Tijdschrift voor Geneeskunde

Volumn 141, Issue 6, 1997, Pages 296-298

  Engels, C H A M ^a   Van Dongen, P W J ^a   Boers, G H J ^a   Steijlen, P M ^a   Hamel, B C J ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN;

ADULT; ARTICLE; CASE REPORT; COLLAGEN DEFECT; COLLAGEN DISEASE; EHLERS DANLOS SYNDROME; FEMALE; HUMAN; PHENOTYPE; PRESCHOOL CHILD;

ADULT; CHILD, PRESCHOOL; COLLAGEN; EHLERS-DANLOS SYNDROME; FEMALE; HUMANS;

EID: 0031057564     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (12)

1. Steinmann B, Royce B, Superti-Furga A. Ehlers-Danlos syndrome. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders: molecular, genetic and medical aspects. New York: Wiley-Liss, 1993:351-409.
2. Beighton P. The Ehlers-Danlos syndromes. In: Beighton P, editor. McKusick's heritable disorders of connective tissue. 5th ed. St. Louis: Mosby, 1993:189-253.
3. Pope MF, Smith R. Color atlas of inherited connective tissue disorders. London: Mosby-Wolfe, 1995:47-72.
4. Byers PH. Ehlers-Danlos syndrome type IV: a genetic disorder in many guises. J Invest Dermatol 1995;105:311-3.
5. Rudd NL, Nimrod C, Holbrook KA, Byers PH. Pregnancy complications in type IV Ehlers-Danlos syndrome. Lancet 1983;i:50-3.
6. Pope FM, Nicholls AC. Pregnancy and Ehlers-Danlos syndrome type IV [letter]. Lancet 1983;i:249-50.
7. Paepe A de, Nuytink L, Leroy J. Mutations in the gene for collagen type III: phenotypic spectrum and genotype-phenotype correlation. In: Bartsocas CS, Beighton P, editors. Dysmorphology and genetics of cardiovascular disorders. Athens: HTA, 1994:107-25.
8. Paepe A de, Nicholls A, Narcisi P, Keyser F de, Quatacker J, Staey M van, et al. Ehlers-Danlos syndrome type I: a clinical and ultrastructural study of a family with reduced amounts of collagen type III. Br J Dermatol 1987;117:89-97.
9. Narcisi P, Richards AJ, Ferguson SD, Pope FM. A family with Ehlers-Danlos syndrome type III/articular hypermobility syndrome has a glycine 637 to serine substitution in type III collagen. Hum Mol Genet 1994;3:1617-20.
10. Pope FM, Narcisi P, Nicholls AC, Liberman M, Oorthuys JWE. Clinical presentations of Ehlers Danlos syndrome type IV. Arch Dis Child 1988;63:1016-25.
11. Raghunath M, Steinmann B, Delozier-Blanchet C, Extermann P, Superti-Furga A. Prenatal diagnosis of collagen disorders by direct biochemical analysis of chorionic villus biopsies. Pediatr Res 1994; 36:441-8.
12. Paepe A de, Thaler B, Gijsegem M van, Hoecke D van, Matton M. Obstetrical problems in patients with Ehlers-Danlos syndrome type IV; a case report. Eur J Obstet Gynecol Reprod Biol 1989;33: 189-93.