Article
Analysis of RET, ZEB2, EDN3 and GDNF genomic rearrangements in central congenital hyperventilation syndrome patients by multiplex ligation-dependent probe amplification.
Annals of human genetics - 1 Jul 2010
Serra Alexandre, Görgens Heike, Alhadad Karin, Fitze Guido, Schackert Hans K
Abstract excerpt
Central congenital hypoventilation syndrome (CCHS) is an autonomous control disease producing hypoventilation, high PaCO(2), and low PaO(2) during quiet sleep. The main gene variants detected in CCHS are mutations in the PHOX2b gene in up to 97% of isolated cases. However, CCHS is sometimes assoc...
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