Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members

Yakov Sivan, Amy Zhou, Lawrence J. Jennings, Elizabeth M. Berry-Kravis, Min Yu, Lili Zhou, Casey M. Rand, Debra E. Weese-Mayer

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3 Scopus citations

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Medicine & Life Sciences