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The Ehlers–Danlos syndromes, rare types

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.70-115

2017

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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

American journal of human genetics, 2016-11, Vol.99 (5), p.1005-1014

2016

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Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

Acta dermato-venereologica, 2020-03, Vol.100 (7), p.adv00092-160

2020

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Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Genetics in medicine, 2020-10, Vol.22 (10), p.1576-1582

2020

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Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Genetics in medicine, 2019-09, Vol.21 (9), p.2081-2091

2019

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Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Genetics in medicine, 2016-11, Vol.18 (11), p.1119-1127

2016

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Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review

Frontiers in medicine, 2023-01, Vol.10, p.1053466

2023

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Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

Nature genetics, 2000-06, Vol.25 (2), p.223-227

2000

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The role of cutaneous manifestations in the diagnosis of the Ehlers‐Danlos syndromes

Skin health and disease, 2023-02, Vol.3 (1), p.e140-n/a

2023

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Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Genes, 2019-09, Vol.10 (10), p.762

2019

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Autosomal Dominant Cutis Laxa with Severe Lung Disease: Synthesis and Matrix Deposition of Mutant Tropoelastin

Journal of investigative dermatology, 2005-06, Vol.124 (6), p.1193-1199

2005

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Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

American journal of human genetics, 2003-10, Vol.73 (4), p.791-800

2003

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Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review

Journal of the American Academy of Dermatology, 2023-09, Vol.89 (3), p.551-559

2023

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Skin fragility and wound management in Ehlers–Danlos syndromes: a report by the International Consortium on Ehlers–Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group

Clinical and experimental dermatology, 2024-08

2024

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Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Journal of medical genetics, 2024-03, Vol.61 (3), p.232-238

2024

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Arterial complications in classical Ehlers-Danlos syndrome: a case series

Journal of medical genetics, 2020-11, Vol.57 (11), p.769-776

2020

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Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

American journal of medical genetics. Part A, 2020-05, Vol.182 (5), p.994-1007

2020

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Ehlers-Danlos syndrome type IV in a young man

Journal of rheumatology, 2006-10, Vol.33 (10), p.2091

2006

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Dermatosparaxis (Ehlers-Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

American journal of medical genetics. Part A, 2013-05, Vol.161A (5), p.1122-1125

2013

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Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene

American journal of medical genetics. Part A, 2015-08, Vol.167A (8), p.1763-1772

2015

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A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

American journal of human genetics, 2001-10, Vol.69 (4), p.749-764

2001

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Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

American journal of medical genetics. Part A, 2014-02, Vol.164A (2), p.386-391

2014

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The 2017 international classification of the Ehlers–Danlos syndromes

American journal of medical genetics. Part C, Seminars in medical genetics, 2017-03, Vol.175 (1), p.8-26

2017

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COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

British journal of ophthalmology, 2000-04, Vol.84 (4), p.364-371

2000

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The Ehlers–Danlos syndromes, rare types

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue fragility

Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers–Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility

Targeted next-generation sequencing makes new molecular diagnoses and expands genotype–phenotype relationship in Ehlers–Danlos syndrome

Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum

The role of cutaneous manifestations in the diagnosis of the Ehlers‐Danlos syndromes

Absence of Collagen Flowers on Electron Microscopy and Identification of (Likely) Pathogenic COL5A1 Variants in Two Patients

Autosomal Dominant Cutis Laxa with Severe Lung Disease: Synthesis and Matrix Deposition of Mutant Tropoelastin

Mutations in the Gene Encoding Capillary Morphogenesis Protein 2 Cause Juvenile Hyaline Fibromatosis and Infantile Systemic Hyalinosis

Dermatologic manifestations and diagnostic assessments of the Ehlers-Danlos syndromes: A clinical review

Skin fragility and wound management in Ehlers–Danlos syndromes: a report by the International Consortium on Ehlers–Danlos Syndromes and Hypermobility Spectrum Disorders Skin Working Group

Genetic complexity of diagnostically unresolved Ehlers-Danlos syndrome

Arterial complications in classical Ehlers-Danlos syndrome: a case series

Clinical features, molecular results, and management of 12 individuals with the rare arthrochalasia Ehlers‐Danlos syndrome

A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history

Ehlers-Danlos syndrome type IV in a young man

Dermatosparaxis (Ehlers-Danlos Type VIIC): Prenatal Diagnosis Following a Previous Pregnancy With Unexpected Skull Fractures at Delivery

Clinical, structural, biochemical and X-ray crystallographic correlates of pathogenicity for variants in the C-propeptide region of the COL3A1 gene

A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

Four patients with Sillence type I osteogenesis imperfecta and mild bone fragility, complicated by left ventricular cardiac valvular disease and cardiac tissue fragility caused by type I collagen mutations

The 2017 international classification of the Ehlers–Danlos syndromes

COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes

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