Hereditary connective tissue disorders

David R. Murdock; Harry C. Dietz; Gretchen MacCarrick

doi:10.1016/B978-0-12-817344-2.00010-1

Hereditary connective tissue disorders

David R. Murdock, Harry C. Dietz, Gretchen MacCarrick

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

Abstract

A connective tissue disorder is any disease that impacts the structures between cells, typically impacting collagen or elastin protein production or function. Heritable disorders of connective tissue is a broad category, ranging from a description of nonspecific features (hypermobility, flat feet, scoliosis) seen somewhat commonly in the general population to genetic syndromes typically without vascular involvement (Stickler syndrome, Ehlers-Danlos syndrome) to syndromes predisposing to vascular tear or rupture (heritable thoracic aortic disease).

Original language	English (US)
Title of host publication	Handbook of Clinical Adult Genetics and Genomics
Subtitle of host publication	A Practice-Based Approach
Publisher	Elsevier
Pages	127-145
Number of pages	19
ISBN (Electronic)	9780128173442
DOIs	https://doi.org/10.1016/B978-0-12-817344-2.00010-1
State	Published - Jan 1 2020

Keywords

Aortic aneurysm
Aortic dissection
Connective tissue
Ehlers-danlos
HDCT
HTAD
Loeys-dietz
Marfan
Stickler

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

Access to Document

10.1016/B978-0-12-817344-2.00010-1

Cite this

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title = "Hereditary connective tissue disorders",

abstract = "A connective tissue disorder is any disease that impacts the structures between cells, typically impacting collagen or elastin protein production or function. Heritable disorders of connective tissue is a broad category, ranging from a description of nonspecific features (hypermobility, flat feet, scoliosis) seen somewhat commonly in the general population to genetic syndromes typically without vascular involvement (Stickler syndrome, Ehlers-Danlos syndrome) to syndromes predisposing to vascular tear or rupture (heritable thoracic aortic disease).",

keywords = "Aortic aneurysm, Aortic dissection, Connective tissue, Ehlers-danlos, HDCT, HTAD, Loeys-dietz, Marfan, Stickler",

author = "Murdock, {David R.} and Dietz, {Harry C.} and Gretchen MacCarrick",

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AU - Murdock, David R.

AU - Dietz, Harry C.

AU - MacCarrick, Gretchen

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N2 - A connective tissue disorder is any disease that impacts the structures between cells, typically impacting collagen or elastin protein production or function. Heritable disorders of connective tissue is a broad category, ranging from a description of nonspecific features (hypermobility, flat feet, scoliosis) seen somewhat commonly in the general population to genetic syndromes typically without vascular involvement (Stickler syndrome, Ehlers-Danlos syndrome) to syndromes predisposing to vascular tear or rupture (heritable thoracic aortic disease).

AB - A connective tissue disorder is any disease that impacts the structures between cells, typically impacting collagen or elastin protein production or function. Heritable disorders of connective tissue is a broad category, ranging from a description of nonspecific features (hypermobility, flat feet, scoliosis) seen somewhat commonly in the general population to genetic syndromes typically without vascular involvement (Stickler syndrome, Ehlers-Danlos syndrome) to syndromes predisposing to vascular tear or rupture (heritable thoracic aortic disease).

KW - Aortic aneurysm

KW - Aortic dissection

KW - Connective tissue

KW - Ehlers-danlos

KW - HDCT

KW - HTAD

KW - Loeys-dietz

KW - Marfan

KW - Stickler

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M3 - Chapter

AN - SCOPUS:85124855764

SP - 127

EP - 145

BT - Handbook of Clinical Adult Genetics and Genomics

PB - Elsevier

ER -

Hereditary connective tissue disorders

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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