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

I. Matera; T. Bachetti; F. Puppo; M. Di Duca; F. Morandi; G. M. Casiraghi; M. R. Cilio; R. Hennekam; R. Hofstra; J. G. Schöber; R. Ravazzolo; G. Ottonello; I. Ceccherini

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

I. Matera, T. Bachetti, F. Puppo, M. Di Duca, F. Morandi, G. M. Casiraghi, M. R. Cilio, R. Hennekam, R. Hofstra, J. G. Schöber, R. Ravazzolo, G. Ottonello, I. Ceccherini

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	373-380
Number of pages	8
Journal	Journal of Medical Genetics
Volume	41
Issue number	5
Publication status	Published - May 2004

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Matera, I., Bachetti, T., Puppo, F., Di Duca, M., Morandi, F., Casiraghi, G. M., Cilio, M. R., Hennekam, R., Hofstra, R., Schöber, J. G., Ravazzolo, R., Ottonello, G., & Ceccherini, I. (2004). 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. Journal of Medical Genetics, 41(5), 373-380.

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. / Matera, I.; Bachetti, T.; Puppo, F.; Di Duca, M.; Morandi, F.; Casiraghi, G. M.; Cilio, M. R.; Hennekam, R.; Hofstra, R.; Schöber, J. G.; Ravazzolo, R.; Ottonello, G.; Ceccherini, I.

In: Journal of Medical Genetics, Vol. 41, No. 5, 05.2004, p. 373-380.

Research output: Contribution to journal › Article › peer-review

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 2004, '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', Journal of Medical Genetics, vol. 41, no. 5, pp. 373-380.

Matera, I. ; Bachetti, T. ; Puppo, F. ; Di Duca, M. ; Morandi, F. ; Casiraghi, G. M. ; Cilio, M. R. ; Hennekam, R. ; Hofstra, R. ; Schöber, J. G. ; Ravazzolo, R. ; Ottonello, G. ; Ceccherini, I. / 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. In: Journal of Medical Genetics. 2004 ; Vol. 41, No. 5. pp. 373-380.

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author = "I. Matera and T. Bachetti and F. Puppo and {Di Duca}, M. and F. Morandi and Casiraghi, {G. M.} and Cilio, {M. R.} and R. Hennekam and R. Hofstra and Sch{\"o}ber, {J. G.} and R. Ravazzolo and G. Ottonello and I. Ceccherini",

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AU - Matera, I.

AU - Bachetti, T.

AU - Puppo, F.

AU - Di Duca, M.

AU - Morandi, F.

AU - Casiraghi, G. M.

AU - Cilio, M. R.

AU - Hennekam, R.

AU - Hofstra, R.

AU - Schöber, J. G.

AU - Ravazzolo, R.

AU - Ottonello, G.

AU - Ceccherini, I.

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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

ASJC Scopus subject areas

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