Associated Papers
[NFIX gene mutation causes Marshall-Smith syndrome in a pair of identical twins and literature review].
Lin XQ et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2024
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis.
Timberlake AT et al.
Human Genetics, 2023
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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