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Article

Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Jan 2007

Chen Lei-Ru, Tsao Po-Nien, Su Yi-Ning, Fan Pi-Chuan, Chou Hung-Cheih, Chen Chien-Yi, Chang Yu-Hsun, Hsieh Wu-Shiun

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare disease that is characterized by failure in the autonomic control of breathing. Recent reports have identified mutation of the paired mesoderm homeobox protein 2b (PHOX2B) gene as playing a major role in CCHS. Increasing polyalanine repeat number is associated with a more severe clinical phenotype. We report a newborn male infant with the clinical...

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DNA Mutational Analysis
Homeodomain Proteins
Hypoventilation
Infant, Newborn
Respiration, Artificial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17282973
DOI: 10.1016/S0929-6646(09)60218-7

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