✦ LIBER ✦

Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII

✍ Scribed by Hartsfield Jr., James K. ;Kousseff, Boris G.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 673 KB
Volume: 37
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320370408

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Ehlers-Danlos syndrome type VIII and leu

Ehlers-Danlos syndrome type VIII and leukodystrophy

✍ Spranger, Stephanie; Spranger, Matthias; Kirchhof, Klaus; Steinmann, Beat 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 205 KB

Ehlers-Danlos syndrome type VIII (EDS VIII) is a rare disorder of unknown cause inherited in an autoso-ma1 dominant mode. Specific alterations in the synthesis or secretion of collagens I and 111, or ultrastructural abnormalities of skin fibroblasts and extracellular matrix, have not been demonstrat

Molecular and cytologic studies of Ehler

Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII

✍ Biesecker, L. G. ;Erickson, R. P. ;Glover, T. W. ;Bonadio, J. 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 556 KB

Neuromuscular involvement in various typ

Neuromuscular involvement in various types of Ehlers–Danlos syndrome

✍ Nicol C. Voermans; Nens van Alfen; Sigrid Pillen; Martin Lammens; Joost Schalkwi 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 243 KB 👁 1 views

## Abstract ## Objective Ehlers–Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of heritable connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility. Muscle involvement is plausible based on recently discovered inter

Clinical, morphological, and biochemical

Clinical, morphological, and biochemical phenotype of a new case of Ehlers-Danlos syndrome type VIIC

✍ Fujimoto, Atsuko; Wilcox, William R.; Cohn, Daniel H. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 227 KB 👁 2 views

Ehlers-Danlos syndrome (EDS) type VIIC is a newly recognized human disorder which results from failure to remove the aminoterminal propeptide of type I procollagen. Four cases of EDS type VIIC have been reported, and here we describe a fifth case. The propositus was a 1,445 g male infant born at 30

Efficient strategy for the detection of

Efficient strategy for the detection of mutations in acrogeric Ehlers-danlos syndrome type IV

✍ P. H. Johnson; A. J. Richards; J. C. Lloyd; F. M. Pope; D. A. Hopkinson 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 668 KB

cDNA encoding the C-terminal domain (nt2283 to 3714) of type 111 collagen was amplified by PCR in five overlapping products and examined for mutations in 13 patients with Ehlers-Danlos syndrome type 1V (EDS 1V) with uncharacterised lesions and in five control patients with known single base mutation

Substitution of valine for glycine 793 i

Substitution of valine for glycine 793 in type III procollagen in Ehlers-Danlos syndrome type IV

✍ Gerard Tromp; Anne De Paepe; Lieve Nuytinck; Swarna Madhatheri; Helena Kuivaniem 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 234 KB