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Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report

โœ Scribed by Muslim Mohammed Al Saadi


Publisher
Springer-Verlag
Year
2010
Tongue
English
Weight
627 KB
Volume
15
Category
Article
ISSN
1520-9512

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In Vitro studies of non poly alanine PHO
โœ Delphine Trochet; Yves Mathieu; Loรฏc de Pontual; Ravi Savarirayan; Arnold Munnic ๐Ÿ“‚ Article ๐Ÿ“… 2009 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 550 KB

A wide range of autonomic dysfunctions, i.e. Central Hypoventilation Syndromes, Hirschsprung disease and Tumours of the Sympathetic Nervous System have been ascribed to heterozygous PHOX2B mutations in man. The PHOX2B mutations reported include polyalanine expansions in a 20 alanines tract, missense