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Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS).

Rand CM, Yu M, Jennings LJ, Panesar K, Berry-Kravis EM, Zhou L, Weese-Mayer DE. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). Am J Med Genet A. 2012 Sep; 158A(9):2297-301.

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