Search Results - "Jurgensen, Taryn J"

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations by Kasi, Ajay S, Li, Hong, Jurgensen, Taryn J, Guglani, Lokesh, Keens, Thomas G, Perez, Iris A

“…Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting the autonomic nervous system that is caused by variants in the paired-like…”
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Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation by Kasi, Ajay S, Jurgensen, Taryn J, Yen, Stephanie, Kun, Sheila S, Keens, Thomas G, Perez, Iris A

“…non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to be associated with…”
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