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Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism

Tiziana Bachetti1, Marco Di Duca, Matteo Della Monica

  • 1U.O.C. Medical Genetics, Institute Giannina Gaslini, Genova, Italy.

Pediatric Pulmonology
|March 6, 2013
PubMed

Keywords:
PHOX2B polyalanine expansioncapillary electrophoresis of fluorescent amplimerscongenital central hypoventilation syndrome (CCHS)disease recurrencegenetic counselingsomatic mosaicism

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