Severe neonatal presentation of Xp21 contiguous gene deletion: adrenal crisis and neuromuscular involvement
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Background: Xp21 contiguous gene deletion syndrome is a rare X-linked disorder involving deletions of DMD, GK, and NR0B1 (DAX1), leading to a combination of Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital ... ...
