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PHOX2B Mutation in a Taiwanese Newborn with Congenital Central Hypoventilation Syndrome

✍ Scribed by Wang, Tzu-Chiang; Su, Yi-Ning; Lai, Ming-Chi

Book ID
122173785
Publisher
Elsevier
Year
2014
Tongue
English
Weight
376 KB
Volume
55
Category
Article
ISSN
1875-9572

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πŸ“œ SIMILAR VOLUMES

Parental origin and somatic mosaicism of
Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome
✍ Sara Parodi; Tiziana Bachetti; Francesca Lantieri; Marco Di Duca; Giuseppe Santa πŸ“‚ Article πŸ“… 2007 πŸ› John Wiley and Sons 🌐 English βš– 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

Homozygous mutation of the PHOX2B gene i
Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse)
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Homozygosity for a dominant allele is relatively rare and preferentially observed in communities with high inbreeding. According to the definition of true dominance, similar phenotypes should be observed in patients heterozygous and homozygous for a dominant mutation. However, the homozygous phenoty