Natural Evolution of Morquio A Syndrome Caused by Two Heterozygous Mutations of the GALNS Gene
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DOI: 10.4274/balkanmedj.galenos.2022.2022-1-72
Abstract: A 21-month-old boy (Figure 1a; Figure 1b) presented to the surgery department with foot and spine deformity. He was born after a fullterm pregnancy with no complications. His parents were healthy and nonconsanguineous. Birth anthropometric… read more here.
Keywords: caused two; galns gene; two heterozygous; heterozygous mutations ... See more keywords