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Hyaline fibromatosis syndrome resulting from a new homozygous missense mutation, p.Gly116Val, in ANTXR2


Correspondence: Ciğdem Kasapkara, M.D., Pediatric Metabolism and Nutrition, Gazi University Hospital, Pediatric Metabolic Unit, 10th Floor, Besevler, Ankara 06500, Turkey. Email:

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