Ehlers‐Danlos syndromes: Revised nosology, Villefranche, 1997
- P. Beighton, A. Paepe, B. Steinmann, P. Tsipouras, R. Wenstrup
- Medicine, Psychology
- 28 April 1998
This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.
Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
- Y. Nitschke, G. Baujat, F. Rutsch
- Biology, MedicineAmerican Journal of Human Genetics
- 13 January 2012
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.
- J. Mayr, T. Haack, H. Prokisch
- Biology, MedicineAmerican Journal of Human Genetics
- 10 February 2012
Fanconi-Bickel syndrome – the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature
- R. Santer, R. Schneppenheim, D. Suter, J. Schaub, B. Steinmann
- MedicineEuropean Journal of Pediatrics
- 24 September 1998
It is shown that the typical clinical and laboratory findings of FBS persist into adulthood and the main steps in the pathophysiology of Fanconi-Bickel syndrome are far from clear and thus encourage the ongoing study of patients with this disorder.
Loss of dermatan-4-sulfotransferase 1 function results in adducted thumb-clubfoot syndrome.
- M. Dündar, T. Müller, A. Janecke
- Biology, ChemistryAmerican Journal of Human Genetics
- 11 December 2009
Connective tissue and its heritable disorders —Molecular, genetic and medical aspects
- P. Royce, B. Steinmann
- Medicine
- 1993
Heritable Disorders of Connective Tissue: A Personal Account of the Origins, Evolution, Validation, and Expansion of a Concept and heritable Forms of Rickets and Osteomalacia.
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
- M. Baumann, C. Giunta, C. Fauth
- MedicineAmerican Journal of Human Genetics
- 10 February 2012
Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).
- P. Beighton, A. De Paepe, B. Steinmann, P. Tsipouras, R. Wenstrup
- Medicine, PsychologyAmerican journal of medical genetics
- 28 April 1998
This work proposes a revision of the classification of the Ehlers-Danlos syndromes based primarily on the cause of each type based on major and minor diagnostic criteria defined for each type and complemented whenever possible with laboratory findings.
Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome--an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13.
- C. Giunta, N. Elçioglu, B. Steinmann
- MedicineAmerican Journal of Human Genetics
- 6 June 2008
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