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The importance of PHOX2B sequence analysis and family studies in Congenital Central Hypoventilation Syndrome, primarily a polyalanine repeat disorder

Sarah Burton Jones,D. E. Fransen van de Putte,C. Faulkner,L. Yarram, J. C. Evans, T. Patrick,P. Lunt,P. Fleming,E. K. Bijlsma, M. Williams

JOURNAL OF MEDICAL GENETICS（2010）

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