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Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation

✍ Scribed by Mei-Chen Ou-Yang; San-Nan Yang; Yung-Ming Hsu; Mei-Hui Ou-Yang; Hsin-Chun Haung; Shin-Yi Lee; Wu-Shiun Hsieh; Yi-Ning Su; Chieh-An Liu


Book ID
116686204
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
77 KB
Volume
42
Category
Article
ISSN
0022-3468

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Homozygous mutation of the PHOX2B gene i
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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