An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome

A Martin - European Journal of Medical Genetics, 2019 - Elsevier
… for heritable connective tissue disorders and or acquired musculoskeletal conditions without
a … Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical …

Diversity in heritable disorders of connective tissue at a single center

RH Hsu, YH Chien, WL Hwu, NC Lee - Connective Tissue …, 2021 - Taylor & Francis
… Sixty-seven genes were selected through a review of the published literature for the diagnosis
of connective tissue diseases ( Table 2 ). Targeted capture was performed using SeqCap …

Hereditary connective tissue disorders

DR Murdock, HC Dietz III, G MacCarrick - Handbook of Clinical Adult …, 2020 - Elsevier
… A connective tissue disorder is any disease that impacts the … Heritable disorders of connective
tissue is a broad category, … in the general population to genetic syndromes typically without …

[HTML][HTML] Multifactorial and hereditary connective tissue disorders in children. diagnostic algorithms. management tactics. russian guidelines

LN Abbakumova, VG Arsentev… - Pediatrician (St …, 2016 - journals.eco-vector.com
… forms of inherited disorders of connective tissue and multifactorial connective tissue dysplasia
… proteins of the connective tissue, a rarity major mutations and low availability of molecular …

Heritable disorders of connective tissue: Description of a data repository and initial cohort characterization

R Bascom, JR Schubart, S Mills, T Smith… - American Journal of …, 2019 - Wiley Online Library
… We describe a data repository on heritable disorders of connective tissueReview criteria
included personal or family history features suggestive of a heritable connective tissue disorder

Bone fragility in hereditary connective tissue disorders: a systematic review and meta-analysis

N Charoenngam, T Rittiphairoj, B Ponvilawan… - Endocrine Practice, 2023 - Elsevier
… fragility with hereditary connective tissue disorders, including Ehlers-… phenotype of these
hereditary connective tissue disorders. … Hereditary disorders of connective tissue: a guide to the …

[HTML][HTML] Reactive oxygen species and oxidative stress in the pathogenesis and progression of genetic diseases of the connective tissue

G Egea, F Jiménez-Altayó, V Campuzano - Antioxidants, 2020 - mdpi.com
… This review addresses the involvement of oxidative stress in the pathogenesis and … connective
tissue genetic diseases, of which most of them belong to the large family of rare diseases. …

Spontaneous coronary artery dissection and its association with heritable connective tissue disorders

S Henkin, SM Negrotto, MS Tweet, S Kirmani… - Heart, 2016 - heart.bmj.com
… and molecular genetic screening for connective tissue disorders in patients with SCAD. …
heritable connective tissue disease was extracted. Genetic testing for connective tissue disorders

[HTML][HTML] Heritable connective tissue disorders in childhood: increased fatigue, pain, disability and decreased general health

…, Pediatric Heritable Connective Tissue Disorders Study … - Genes, 2021 - mdpi.com
reviewed and revised the manuscript. The members of the Pediatric Heritable Connective
Tissue Disorders … to the acquisition of data and reviewed the manuscript. All authors have read …

[HTML][HTML] Connective tissue disorders and eye: A review and recent updates

MI Asif, N Kalra, N Sharma, N Jain… - Indian journal of …, 2023 - journals.lww.com
Heritable Connective Tissue Disorders Heritable disorders of the connective tissue (HDCTs)
are syndromes that disrupt connective tissue integrity. They include MFS, EDS, Alport …