A novel PHOX2B gene mutation in an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease

2019 ◽  
Vol 62 (9) ◽  
pp. 103541 ◽  
Author(s):  
Yuichiro Miura ◽  
Tatsuya Watanabe ◽  
Toshihiko Uchida ◽  
Tatsuro Nawa ◽  
Naobumi Endo ◽  
...  
Keyword(s):  
Birth Weight ◽  
Low Birth Weight ◽  
Gene Mutation ◽  
Hirschsprung's Disease ◽  
Extremely Low Birth Weight ◽  
Congenital Central Hypoventilation Syndrome ◽  
Low Birth Weight Infant ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals A Case of Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Korean Neonate

2010 ◽  
Vol 25 (8) ◽  
pp. 1237 ◽  
Author(s):  
Kyoung-Ah Kwon ◽  
Su-Eun Park ◽  
Shin-Yun Byun ◽  
Shine-Young Kim ◽  
Sang-Hyoun Hwang
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation: Are We Missing the Diagnosis?

2012 ◽  
Vol 80 (8) ◽  
pp. 688-690 ◽  
Author(s):  
Nilay Nirupam ◽  
Rajni Sharma ◽  
Viswas Chhapola ◽  
Sandeep Kumar Kanwal ◽  
Elizabeth M. Berry-Kravis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

scholarly journals Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation in a Taiwanese Infant

2007 ◽  
Vol 106 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Lei-Ru Chen ◽  
Po-Nien Tsao ◽  
Yi-Ning Su ◽  
Pi-Chuan Fan ◽  
Hung-Cheih Chou ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Congenital Central Hypoventilation Syndrome with PHOX2B Gene Mutation

2012 ◽  
Vol 79 (11) ◽  
pp. 1526-1528 ◽  
Author(s):  
Lokesh Lingappa ◽  
Nalini Kanth Panigrahi ◽  
Dinesh Kumar Chirla ◽  
Sarah Burton-Jones ◽  
Margaret M Williams
Keyword(s):  
Gene Mutation ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome

Late-onset congenital central hypoventilation syndrome and a rare PHOX2B gene mutation

2014 ◽  
Vol 19 (1) ◽  
pp. 55-60 ◽  
Author(s):  
Joana Magalhães ◽  
Núria Madureira ◽  
Rita Medeiros ◽  
Paula C. Fernandes ◽  
Myriam Oufadem ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Late Onset ◽  
Congenital Central Hypoventilation Syndrome ◽  
Phox2b Gene ◽  
Central Hypoventilation ◽  
Hypoventilation Syndrome
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