(Q44465434)

3 December 2017

Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism (English)

1 reference

3 December 2017

Ehlers-Danlos syndrome

0 references

author

Peter H. Byers

9

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3 December 2017

Palmeri S

1

1 reference

3 December 2017

Mari F

2

1 reference

3 December 2017

Meloni I

3

1 reference

3 December 2017

Malandrini A

4

1 reference

3 December 2017

Ariani F

5

1 reference

3 December 2017

Villanova M

6

1 reference

3 December 2017

Pompilio A

7

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3 December 2017

Schwarze U

8

1 reference

3 December 2017

Renieri A

10

1 reference

3 December 2017

language of work or name

1 reference

1 June 2003

1 reference

3 December 2017

1 reference

3 December 2017

63

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3 December 2017

6

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3 December 2017

510-515

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Neurovascular manifestations of heritable connective tissue disorders. A review

3 December 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos syndrome type IV. Demonstrate reduced type III collagen synthesis

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Type III collagen mutations cause fragile cerebral arteries

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Cerebrovascular complications in Ehlers-Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Angiographic abnormalities mimicking fibromuscular dysplasia in a patient with Ehlers-Danlos syndrome, type IV

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Bilateral focal polymicrogyria in Ehlers-Danlos syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Clinical presentations of Ehlers Danlos syndrome type IV.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

COL3A1 mutations cause variable clinical phenotypes including acrogeria and vascular rupture

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

Large kindred with Ehlers-Danlos syndrome type IV due to a point mutation (G571S) in theCOL3A1 gene of type III procollagen: Low risk of pregnancy complications and unexpected longevity in some affected relatives

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutation

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2003.00075.X

7 January 2021

10.1034/J.1399-0004.2003.00075.X

Identifiers

DOI

1 reference

3 December 2017

1 reference