Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Taiwanese Infant
β Scribed by Lei-Ru Chen; Po-Nien Tsao; Yi-Ning Su; Pi-Chuan Fan; Hung-Cheih Chou; Chien-Yi Chen; Yu-Hsun Chang; Wu-Shiun Hsieh
- Book ID
- 117630665
- Publisher
- Chinese Electronic Periodical Services
- Year
- 2007
- Tongue
- English
- Weight
- 322 KB
- Volume
- 106
- Category
- Article
- ISSN
- 0929-6646
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π SIMILAR VOLUMES
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
## 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