Parental origin and somatic mosaicism of
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Sara Parodi; Tiziana Bachetti; Francesca Lantieri; Marco Di Duca; Giuseppe Santa
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Article
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2007
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John Wiley and Sons
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English
⚖ 191 KB
## Communicated by Michel Goossens Heterozygous polyalanine repeat expansions of PHOX2B have been associated with Congenital Central Hypoventilation Syndrome, a rare neurocristopathy characterized by absence of adequate control of respiration during sleep. Here we report a PHOX2B mutational screen