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Literature DB >> 890102

A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis.

R E Stewart, D W Hollister, D L Rimoin.

Abstract

Entities: Disease Mutation

Mesh：

Year: 1977 PMID： 890102

Source DB: PubMed Journal: Birth Defects Orig Artic Ser ISSN： 0547-6844

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12 in total

1. Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Authors: Nazneen Rahman; Melanie Dunstan; M Dawn Teare; Sandra Hanks; Jenny Douglas; Kim Coleman; William E Bottomly; Mary E Campbell; Britta Berglund; Magnus Nordenskjöld; Bengt Forssell; Nigel Burrows; Peter Lunt; Ian Young; Nigel Williams; Graham R Bignell; P Andrew Futreal; F Michael Pope
Journal: Am J Hum Genet Date: 2003-05-29 Impact factor: 11.025

Review 2. Ehlers-Danlos syndrome has varied molecular mechanisms.

Authors: F M Pope; N P Burrows
Journal: J Med Genet Date: 1997-05 Impact factor: 6.318

Review 3. Prenatal diagnosis and prevention of inherited abnormalities of collagen.

Authors: F M Pope; S C Daw; P Narcisi; A R Richards; A C Nicholls
Journal: J Inherit Metab Dis Date: 1989 Impact factor: 4.982

4. Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.

Authors: Eyal Reinstein; Celia Dawn DeLozier; Ziv Simon; Serguei Bannykh; David L Rimoin; Cynthia J Curry
Journal: Eur J Hum Genet Date: 2012-06-27 Impact factor: 4.246

5. The William Allan Memorial Award Lecture: Genetic nosology: three approaches.

Authors: V A McKusick
Journal: Am J Hum Genet Date: 1978-03 Impact factor: 11.025

Review 6. The Ehlers-Danlos syndromes.

Authors: Fransiska Malfait; Marco Castori; Clair A Francomano; Cecilia Giunta; Tomoki Kosho; Peter H Byers
Journal: Nat Rev Dis Primers Date: 2020-07-30 Impact factor: 52.329

A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis.

1. Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

Review 2. Ehlers-Danlos syndrome has varied molecular mechanisms.

Review 3. Prenatal diagnosis and prevention of inherited abnormalities of collagen.

4. Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.

5. The William Allan Memorial Award Lecture: Genetic nosology: three approaches.

Review 6. The Ehlers-Danlos syndromes.

Review 7. Collagen metabolism: a comparison of diseases of collagen and diseases affecting collagen.

8. Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.

9. Familial gigantiform cementoma with Ehlers - Danlos syndrome: A report of 2 cases.

10. Type VIII - Ehlers Danlos Syndrome with café-au-lait macules: A Rare Variant.