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. Schober; R. Ravazzolo; G. Ottonello; I. Ceccherini; I. Matera

doi:10.1136/jmg.2003.015412

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. Schober
, R. Ravazzolo
, G. Ottonello
, I. Ceccherini
, I. Matera

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

250 Citations (Scopus)

Original language	English
Pages (from-to)	373-380
Number of pages	8
Journal	Journal of Medical Genetics
Volume	41
Issue number	5
DOIs	https://doi.org/10.1136/jmg.2003.015412
Publication status	Published - 2004

Keywords

NERVOUS-SYSTEM DYSFUNCTION
HOMEOBOX GENE PHOX2B
ONDINES-CURSE
DISEASE
DOMAINS
RET

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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
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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., Schober, J. G., Ravazzolo, R., Ottonello, G., Ceccherini, I., & Matera, 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. https://doi.org/10.1136/jmg.2003.015412

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title = "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",

keywords = "NERVOUS-SYSTEM DYSFUNCTION, HOMEOBOX GENE PHOX2B, ONDINES-CURSE, DISEASE, DOMAINS, RET",

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

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Matera, I, Bachetti, T, Puppo, F, Di Duca, M, Morandi, F, Casiraghi, GM, Cilio, MR, Hennekam, R, Hofstra, R, Schober, JG, Ravazzolo, R, Ottonello, G, Ceccherini, I & Matera, 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. https://doi.org/10.1136/jmg.2003.015412

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. et al.
In: Journal of Medical Genetics, Vol. 41, No. 5, 2004, p. 373-380.

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

TY - JOUR

T1 - 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

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 - Schober, J.G.

AU - Ravazzolo, R.

AU - Ottonello, G.

AU - Ceccherini, I.

AU - Matera, I.

N1 - Article

PY - 2004

Y1 - 2004

KW - NERVOUS-SYSTEM DYSFUNCTION

KW - HOMEOBOX GENE PHOX2B

KW - ONDINES-CURSE

KW - DISEASE

KW - DOMAINS

KW - RET

U2 - 10.1136/jmg.2003.015412

DO - 10.1136/jmg.2003.015412

M3 - Article

SN - 0022-2593

VL - 41

SP - 373

EP - 380

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 5

ER -