PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome

被引：223

作者：

Matera, I

Bachetti, T

Puppo, F

Di Duca, M

Morandi, F

Casiraghi, GM

Cilio, MR

Hennekam, R

Hofstra, R

Schöber, JG

Ravazzolo, R

Ottonello, G

Ceccherini, I

机构：

[1] Ist Giannina Gaslini, Genet Mol Lab, I-16148 Genoa, Italy

[2] Ist Giannina Gaslini, Lab Fisiopatol Uremia, I-16148 Genoa, Italy

[3] Osped Sacra Famiglia, UO Pediat, Erba, CO, Italy

[4] Osped Mandic, UO Anestesia & Rianimaz, Merate, Lecco, Italy

[5] Osped Bambino Gesu, Div Neurol, Rome, Italy

[6] Univ Amsterdam, Dept Paediat, NL-1012 WX Amsterdam, Netherlands

[7] Univ Amsterdam, Dept Clin Genet, NL-1012 WX Amsterdam, Netherlands

[8] Univ Groningen, Dept Med Genet, NL-9700 AB Groningen, Netherlands

[9] Kinderklin Dritter Orden, Munich, Germany

[10] Univ Genoa, Dipartimento Pediat, Genoa, Italy

[11] Univ Genoa, CEBR, Genoa, Italy

[12] Ist Giannina Gaslini, UO Anestesia & Reanimaz, I-16148 Genoa, Italy

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 05期

关键词：

D O I：

10.1136/jmg.2003.015412

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：373 / 380

页数：8

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