Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations.

Maria Lisa Dentici; Anna Sarkozy; Francesca Pantaleoni; Claudio Carta; Francesca Lepri; Rosangela Ferese; Viviana Cordeddu; Simone Martinelli; Silvana Briuglia; Maria Cristina Digilio; Giuseppe Zampino; Marco Tartaglia; Bruno Dallapiccola

doi:10.1038/ejhg.2008.256

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations.

Maria Lisa Dentici, Anna Sarkozy, Francesca Pantaleoni, Claudio Carta, Francesca Lepri, Rosangela Ferese, Viviana Cordeddu, Simone Martinelli, Silvana Briuglia, Maria Cristina Digilio, Giuseppe Zampino, Marco Tartaglia, Bruno Dallapiccola

Risultato della ricerca: Contributo in rivista › Articolo in rivista

54 Citazioni (Scopus)

Abstract

N/A

Lingua originale	English
pagine (da-a)	733-740
Numero di pagine	7
Rivista	European Journal of Human Genetics
Volume	17
DOI	https://doi.org/10.1038/ejhg.2008.256
Stato di pubblicazione	Pubblicato - 2009

Keywords

MEK1 gene
MEK2 gene
cardio-facio-cutaneous syndrome

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10.1038/ejhg.2008.256

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Dentici, M. L., Sarkozy, A., Pantaleoni, F., Carta, C., Lepri, F., Ferese, R., Cordeddu, V., Martinelli, S., Briuglia, S., Digilio, M. C., Zampino, G., Tartaglia, M., & Dallapiccola, B. (2009). Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations. European Journal of Human Genetics, 17, 733-740. https://doi.org/10.1038/ejhg.2008.256

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title = "Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations.",

abstract = "N/A",

keywords = "MEK1 gene, MEK2 gene, cardio-facio-cutaneous syndrome, MEK1 gene, MEK2 gene, cardio-facio-cutaneous syndrome",

author = "Dentici, {Maria Lisa} and Anna Sarkozy and Francesca Pantaleoni and Claudio Carta and Francesca Lepri and Rosangela Ferese and Viviana Cordeddu and Simone Martinelli and Silvana Briuglia and Digilio, {Maria Cristina} and Giuseppe Zampino and Marco Tartaglia and Bruno Dallapiccola",

year = "2009",

doi = "10.1038/ejhg.2008.256",

language = "English",

volume = "17",

pages = "733--740",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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Dentici, ML, Sarkozy, A, Pantaleoni, F, Carta, C, Lepri, F, Ferese, R, Cordeddu, V, Martinelli, S, Briuglia, S, Digilio, MC, Zampino, G, Tartaglia, M & Dallapiccola, B 2009, 'Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations.', European Journal of Human Genetics, vol. 17, pagg. 733-740. https://doi.org/10.1038/ejhg.2008.256

TY - JOUR

T1 - Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations.

AU - Dentici, Maria Lisa

AU - Sarkozy, Anna

AU - Pantaleoni, Francesca

AU - Carta, Claudio

AU - Lepri, Francesca

AU - Ferese, Rosangela

AU - Cordeddu, Viviana

AU - Martinelli, Simone

AU - Briuglia, Silvana

AU - Digilio, Maria Cristina

AU - Zampino, Giuseppe

AU - Tartaglia, Marco

AU - Dallapiccola, Bruno

PY - 2009

Y1 - 2009

N2 - N/A

AB - N/A

KW - MEK1 gene

KW - MEK2 gene

KW - cardio-facio-cutaneous syndrome

KW - MEK1 gene

KW - MEK2 gene

KW - cardio-facio-cutaneous syndrome

UR - http://hdl.handle.net/10807/37024

U2 - 10.1038/ejhg.2008.256

DO - 10.1038/ejhg.2008.256

M3 - Article

SN - 1018-4813

VL - 17

SP - 733

EP - 740

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

ER -

Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype -phenotype correlations.

Abstract

Keywords

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