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Results: 2

1.

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.

Koolen DA, Kramer JM, Neveling K, Nillesen WM, Moore-Barton HL, Elmslie FV, Toutain A, Amiel J, Malan V, Tsai AC, Cheung SW, Gilissen C, Verwiel ET, Martens S, Feuth T, Bongers EM, de Vries P, Scheffer H, Vissers LE, de Brouwer AP, Brunner HG, Veltman JA, Schenck A, Yntema HG, de Vries BB.

Nat Genet. 2012 Apr 29;44(6):639-41. doi: 10.1038/ng.2262.

PMID:
22544363
[PubMed - indexed for MEDLINE]
2.

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.

Zollino M, Orteschi D, Murdolo M, Lattante S, Battaglia D, Stefanini C, Mercuri E, Chiurazzi P, Neri G, Marangi G.

Nat Genet. 2012 Apr 29;44(6):636-8. doi: 10.1038/ng.2257.

PMID:
22544367
[PubMed - indexed for MEDLINE]

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