Associated Papers
Further delineation of Malan syndrome.
Priolo M et al.
Human Mutation, 2018
29897170 (PubMed )
Supplement: HUMU-39-1226-s001.pdf
Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome.
Schanze D et al.
Human Mutation, 2014
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