A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype

M. Callea; C.E. Willoughby; F. Camarata-Scalisi; I. Giovannoni; A. Vinciguerra; I. Yavuz; M. Di Stazio; E. Di Iorio; G. Clarich; A. Benettoni; A. Galeotti; E. Bellacchio

A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype

M. Callea
, C.E. Willoughby
, F. Camarata-Scalisi
, I. Giovannoni
, A. Vinciguerra
, I. Yavuz
, M. Di Stazio
, E. Di Iorio
, G. Clarich
, A. Benettoni
, A. Galeotti
, E. Bellacchio

School of Biomedical Sciences

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

Original language	English
Pages (from-to)	70-78
Number of pages	9
Journal	Investigacion Clinica
Volume	58
Issue number	1
Publication status	Published (in print/issue) - 2017

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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https://www.scopus.com/inward/record.uri?eid=2-s2.0-85015826410&partnerID=40&md5=c704931b5fae998df3f0fe56f513f664

Cite this

Callea, M., Willoughby, C. E., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A., & Bellacchio, E. (2017). A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype. Investigacion Clinica, 58(1), 70-78. https://www.scopus.com/inward/record.uri?eid=2-s2.0-85015826410&partnerID=40&md5=c704931b5fae998df3f0fe56f513f664

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title = "A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype",

author = "M. Callea and C.E. Willoughby and F. Camarata-Scalisi and I. Giovannoni and A. Vinciguerra and I. Yavuz and \{Di Stazio\}, M. and \{Di Iorio\}, E. and G. Clarich and A. Benettoni and A. Galeotti and E. Bellacchio",

year = "2017",

language = "English",

volume = "58",

pages = "70--78",

journal = "Investigacion Clinica",

publisher = "Instituto de Investigaciones Clinicas",

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Callea, M, Willoughby, CE, Camarata-Scalisi, F, Giovannoni, I, Vinciguerra, A, Yavuz, I, Di Stazio, M, Di Iorio, E, Clarich, G, Benettoni, A, Galeotti, A & Bellacchio, E 2017, 'A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype', Investigacion Clinica, vol. 58, no. 1, pp. 70-78. <https://www.scopus.com/inward/record.uri?eid=2-s2.0-85015826410&partnerID=40&md5=c704931b5fae998df3f0fe56f513f664>

TY - JOUR

T1 - A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype

AU - Callea, M.

AU - Willoughby, C.E.

AU - Camarata-Scalisi, F.

AU - Giovannoni, I.

AU - Vinciguerra, A.

AU - Yavuz, I.

AU - Di Stazio, M.

AU - Di Iorio, E.

AU - Clarich, G.

AU - Benettoni, A.

AU - Galeotti, A.

AU - Bellacchio, E.

PY - 2017

Y1 - 2017

M3 - Article

VL - 58

SP - 70

EP - 78

JO - Investigacion Clinica

JF - Investigacion Clinica

IS - 1

ER -