Associated Papers
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report.
Macchiaiolo M et al.
Orphanet Journal of Rare Diseases, 2022
A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case.
Priolo M et al.
Gene, 2012
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