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Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.
Hum Mutat. 2006 Apr;27(4):388. doi: 10.1002/humu.9418.
Hum Mutat. 2006.
PMID: 16541386
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.
Benko S, Fantes JA, Amiel J, Kleinjan DJ, Thomas S, Ramsay J, Jamshidi N, Essafi A, Heaney S, Gordon CT, McBride D, Golzio C, Fisher M, Perry P, Abadie V, Ayuso C, Holder-Espinasse M, Kilpatrick N, Lees MM, Picard A, Temple IK, Thomas P, Vazquez MP, Vekemans M, Roest Crollius H, Hastie ND, Munnich A, Etchevers HC, Pelet A, Farlie PG, Fitzpatrick DR, Lyonnet S.
Benko S, et al.
Nat Genet. 2009 Mar;41(3):359-64. doi: 10.1038/ng.329. Epub 2009 Feb 22.
Nat Genet. 2009.
PMID: 19234473
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