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Congenital central hypoventilation syndrome: genotype–phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation

✍ Scribed by S Parodi; C Vollono; MP Baglietto; M Balestri; M Di Duca; PA Landri; I Ceccherini; G Ottonello; MR Cilio


Book ID
110888996
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
567 KB
Volume
78
Category
Article
ISSN
0009-9163

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Parental origin and somatic mosaicism of
✍ Sara Parodi; Tiziana Bachetti; Francesca Lantieri; Marco Di Duca; Giuseppe Santa 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 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