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June 11, 2020 News by Marisa Wexler, MS

Rare Form of EDS Marked by Distinct Facial Features, Short Stature

Mutations in the gene SLC39A13 cause a very rare type of Ehlers-Danlos syndrome (EDS) that is characterized by short stature starting in early childhood and distinctive facial features, a study reports. Its researchers suggest approaches that could be helpful in diagnosing this rare EDS form, including facial analysis and…

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