Holzinger, A; Mittal, RA; Kachel, W; Priessmann, H; Hammel, M; Ihrler, S; Till, H; Munch, HG.
A novel 17 bp deletion in the PHOX2B gene causes congenital central hypoventilation syndrome with total aganglionosis of the small and large intestine
AM J MED GENET A. 2005; 139A(1): 50-51.
Doi: 10.1002/ajmg.a.30975
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