The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

The Connective Tissue Disorder Associated with Recessive Variants in the <i>SLC39A13</i> Zinc Transporter Gene (Spondylo-Dysplastic Ehlers–Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases

Recessive loss-of-function variants in <i>SLC39A13,</i> a putative zinc transporter gene, were first associated with a connective tissue disorder that is now called “Ehlers–Danlos syndrome, spondylodysplastic form type 3” (SCD-EDS, OMIM 612350) in 2008. Nine individuals have been describ...

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Bibliographic Details
Main Authors: Camille Kumps, Belinda Campos-Xavier, Yvonne Hilhorst-Hofstee, Carlo Marcelis, Marius Kraenzlin, Nicole Fleischer, Sheila Unger, Andrea Superti-Furga
Format: Article
Language:English
Published: MDPI AG 2020-04-01
Series:Genes
Subjects:
Ehlers–Danlos syndrome
SLC39A13
dysmorphology
short stature
connective tissue
DeepGestalt technology
Online Access:https://www.mdpi.com/2073-4425/11/4/420

Internet

https://www.mdpi.com/2073-4425/11/4/420

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