![Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome | European Journal of Human Genetics Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome | European Journal of Human Genetics](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2014.60/MediaObjects/41431_2015_Article_BFejhg201460_Fig1_HTML.jpg)
Expanding the clinical spectrum of B4GALT7 deficiency: homozygous p.R270C mutation with founder effect causes Larsen of Reunion Island syndrome | European Journal of Human Genetics
![The elder affected sib is shown at age 22 with short stature and with... | Download Scientific Diagram The elder affected sib is shown at age 22 with short stature and with... | Download Scientific Diagram](https://www.researchgate.net/publication/23452415/figure/fig4/AS:213907433103383@1428010914859/The-elder-affected-sib-is-shown-at-age-22-with-short-stature-and-with-mildly-shortened.png)
The elder affected sib is shown at age 22 with short stature and with... | Download Scientific Diagram
![Genes | Free Full-Text | The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Genes | Free Full-Text | The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on](https://www.mdpi.com/genes/genes-11-00420/article_deploy/html/images/genes-11-00420-g001.png)
Genes | Free Full-Text | The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on
![Genes | Free Full-Text | Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6 Genes | Free Full-Text | Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6](https://pub.mdpi-res.com/genes/genes-10-00799/article_deploy/html/images/genes-10-00799-g005.png?1572461829)
Genes | Free Full-Text | Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-B4GALT7 and Spondylodysplastic-EDS-B3GALT6
![Genes | Free Full-Text | The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism Genes | Free Full-Text | The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism](https://www.mdpi.com/genes/genes-13-00265/article_deploy/html/images/genes-13-00265-g001-550.jpg)
Genes | Free Full-Text | The Ehlers–Danlos Syndromes against the Backdrop of Inborn Errors of Metabolism
4 Ehlers-Danlos Syndromes and Hypermobility Spectrum Disorders | Selected Heritable Disorders of Connective Tissue and Disability |The National Academies Press
![PDF) A case of Ehlers–Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers–Danlos syndrome PDF) A case of Ehlers–Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers–Danlos syndrome](https://i1.rgstatic.net/publication/367604216_A_case_of_Ehlers-Danlos_syndrome_presenting_as_short_stature_a_novel_mutation_in_SLC39A13_causing_spondylodysplastic_Ehlers-Danlos_syndrome/links/63d945a9c97bd76a824e7ab3/largepreview.png)
PDF) A case of Ehlers–Danlos syndrome presenting as short stature: a novel mutation in SLC39A13 causing spondylodysplastic Ehlers–Danlos syndrome
![A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly - ScienceDirect A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S2352304218301491-gr1.jpg)
A novel mutation in COL1A2 leads to osteogenesis imperfecta/Ehlers-Danlos overlap syndrome with brachydactyly - ScienceDirect
![Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics](https://medlineplus.gov/images/PX0001B8_PRESENTATION.jpeg)
Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay: MedlinePlus Genetics
![Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome | Orphanet Journal of Rare Diseases | Full Text Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome | Orphanet Journal of Rare Diseases | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs13023-017-0704-3/MediaObjects/13023_2017_704_Fig1_HTML.gif)
Expanding the clinical and mutational spectrum of B4GALT7-spondylodysplastic Ehlers-Danlos syndrome | Orphanet Journal of Rare Diseases | Full Text
The Ehlers-Danlos Society - What are the other types of Ehlers-Danlos syndromes? Arthrochalasia EDS is characterized by severe generalized joint hypermobility, bilateral hip dislocation present at birth, and recurrent subluxations and dislocations
![The Ehlers–Danlos syndromes, rare types - Brady - 2017 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library The Ehlers–Danlos syndromes, rare types - Brady - 2017 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library](https://onlinelibrary.wiley.com/cms/asset/b4c24d6a-2538-40ca-b805-2c3cda6efa6a/ajmgc31550-fig-0001-m.jpg)
The Ehlers–Danlos syndromes, rare types - Brady - 2017 - American Journal of Medical Genetics Part C: Seminars in Medical Genetics - Wiley Online Library
![Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency | BMC Pediatrics | Full Text Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency | BMC Pediatrics | Full Text](https://media.springernature.com/lw685/springer-static/image/art%3A10.1186%2Fs12887-021-02767-0/MediaObjects/12887_2021_2767_Fig1_HTML.png)
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency | BMC Pediatrics | Full Text
![Ehlers-Danlos syndrome spondylodysplastic type 3 is caused by impaired... | Download Scientific Diagram Ehlers-Danlos syndrome spondylodysplastic type 3 is caused by impaired... | Download Scientific Diagram](https://www.researchgate.net/publication/323284218/figure/fig2/AS:667870631559191@1536244175615/Ehlers-Danlos-syndrome-spondylodysplastic-type-3-is-caused-by-impaired-collagen_Q640.jpg)