Work

Type II Collagen Disorders Overview

Year: 2019

Type: book-chapter

Abstract: The purpose of this GeneReview is to:1. Describe the clinical characteristics of type II collagen disorders; 2. Provide an evaluation strategy to identify the genetic cause of a type II collagen disorder in a proband; 3. Review the differential diagnosis of type II collagen disorders with a focus on genetic conditions; 4. Review management of type II collagen disorders; 5. Inform genetic counseling of family members of an individual with a type II collagen disorder. Most severe (often lethal perinatally)• Achondrogenesis, COL2A1-related (formerly type II, type Langer-Saldino)

Source: University of Washington eBooks

Authors: Pernille A. Gregersen, Ravi Savarirayan

Institutions: Aarhus University, Aarhus University Hospital, The University of Melbourne, Victorian Clinical Genetics Services, Murdoch Children's Research Institute

Language: English

Topic: Connective tissue disorders research

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W3006138252

FWCI: 9.32

Cites: 39

Cited by: 18

Related to: 10