Two novel mutations in exon 3 of PHOX2B gene: think about congenital central hypoventilation syndrome in patients with Hirschsprung disease

被引：0
|
作者：
Maria Giovanna Paglietti
Claudio Cherchi
Federica Porcaro
Emanuele Agolini
Alessandra Schiavino
Francesca Petreschi
Antonio Novelli
Renato Cutrera
机构：
[1] Bambino Gesù Children’s Hospital,Respiratory Unit, Academic Department of Pediatrics
[2] IRCCS,Laboratory of Medical Genetics
[3] Bambino Gesù Children’s Hospital,undefined
[4] IRCCS,undefined
来源：
Italian Journal of Pediatrics | / 45卷
关键词：
Congenital central hypoventilation syndrome; gene; NPARMs; C.255_256delCT; C.780dupT; Genotype-fenotype correlation;
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