EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types-Reference-Cited by-同舟云学术

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

Published:1980-03 Issue:3 Volume:73 Page:180-186
ISSN:0141-0768
Container-title:Journal of the Royal Society of Medicine
language:en
Short-container-title:J R Soc Med

Author:

Pope F M¹,Nicholls A C¹,Jones P M²,Wells R S³,Lawrence D⁴

Affiliation:

1. MRC Clinical Research Centre, Harrow HA1 3UJ

2. Haemophilia Centre, Royal Victoria Infirmary, Newcastle upon Tyne

3. Guy's Hospital, London SE1 9RT

4. King's College Hospital, London SE5 9RS

Abstract

Evidence is presented that type IV of the Ehlers-Danlos syndrome (EDS IV) is genetically variable. A benign autosomal dominant form and two autosomal recessive variants are described with clinical and biochemical features that are distinct from classical acrogeria.

Publisher

SAGE Publications

Subject

General Medicine

Link

http://journals.sagepub.com/doi/pdf/10.1177/014107688007300305

Reference19 articles.

1. Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

2. Variants of the Ehlers-Danlos syndrome. Clinical, biochemical, haematological, and chromosomal features of 100 patients.

3. Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

4. Lysyl Oxidase Deficiency in Ehlers–Danlos Syndrome Type V

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