Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Giuseppe Zampino; Chiara Leoni; Elisabetta Flex; Andrea Ciolfi; Viviana Caputo; Valentina Fodale; Daniela Melis; Maria Francesca Bedeschi; Laura Mazzanti; Antonio Pizzuti; Marco Tartaglia

doi:10.1136/jmedgenet-2012-101405

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Giuseppe Zampino, Chiara Leoni, Elisabetta Flex, Andrea Ciolfi, Viviana Caputo, Valentina Fodale, Daniela Melis, Maria Francesca Bedeschi, Laura Mazzanti, Antonio Pizzuti, Marco Tartaglia

Risultato della ricerca: Contributo in rivista › Articolo in rivista

32 Citazioni (Scopus)

Abstract

Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.

Lingua originale	English
pagine (da-a)	493-499
Numero di pagine	7
Rivista	EJMG
Volume	50
DOI	https://doi.org/10.1136/jmedgenet-2012-101405
Stato di pubblicazione	Pubblicato - 2013

Keywords

Base Sequence
Child
Clinical genetics
Developmental
Diagnosis
Exome
Eye Abnormalities
Facies
Female
Genome-wide
Homozygote
Humans
Intellectual Disability
Limb Deformities, Congenital
Male
Microcephaly
Molecular Sequence Data
Molecular genetics
Mutation
Pedigree
Ubiquitin-Protein Ligases

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10.1136/jmedgenet-2012-101405

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title = "Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome",

abstract = "Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.",

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author = "Giuseppe Zampino and Chiara Leoni and Elisabetta Flex and Andrea Ciolfi and Viviana Caputo and Valentina Fodale and Daniela Melis and Bedeschi, {Maria Francesca} and Laura Mazzanti and Antonio Pizzuti and Marco Tartaglia",

year = "2013",

doi = "10.1136/jmedgenet-2012-101405",

language = "English",

volume = "50",

pages = "493--499",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "London: BMJ Publishing Group.",

}

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome. / Zampino, Giuseppe; Leoni, Chiara; Flex, Elisabetta; Ciolfi, Andrea; Caputo, Viviana; Fodale, Valentina; Melis, Daniela; Bedeschi, Maria Francesca; Mazzanti, Laura; Pizzuti, Antonio; Tartaglia, Marco.

In: EJMG, Vol. 50, 2013, pag. 493-499.

Risultato della ricerca: Contributo in rivista › Articolo in rivista

TY - JOUR

T1 - Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

AU - Zampino, Giuseppe

AU - Leoni, Chiara

AU - Flex, Elisabetta

AU - Ciolfi, Andrea

AU - Caputo, Viviana

AU - Fodale, Valentina

AU - Melis, Daniela

AU - Bedeschi, Maria Francesca

AU - Mazzanti, Laura

AU - Pizzuti, Antonio

AU - Tartaglia, Marco

PY - 2013

Y1 - 2013

N2 - Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.

AB - Kaufman oculocerebrofacial syndrome (KOS) is a developmental disorder characterised by reduced growth, microcephaly, ocular anomalies (microcornea, strabismus, myopia, and pale optic disk), distinctive facial features (narrow palpebral fissures, telecanthus, sparse and laterally broad eyebrows, preauricular tags, and micrognathia), mental retardation, and generalised hypotonia. KOS is a rare, possibly underestimated condition, with fewer than 10 cases reported to date. Here we investigate the molecular cause underlying KOS.

KW - Base Sequence

KW - Child

KW - Clinical genetics

KW - Developmental

KW - Diagnosis

KW - Exome

KW - Eye Abnormalities

KW - Facies

KW - Female

KW - Genome-wide

KW - Homozygote

KW - Humans

KW - Intellectual Disability

KW - Limb Deformities, Congenital

KW - Male

KW - Microcephaly

KW - Molecular Sequence Data

KW - Molecular genetics

KW - Mutation

KW - Pedigree

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KW - Base Sequence

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KW - Clinical genetics

KW - Developmental

KW - Diagnosis

KW - Exome

KW - Eye Abnormalities

KW - Facies

KW - Female

KW - Genome-wide

KW - Homozygote

KW - Humans

KW - Intellectual Disability

KW - Limb Deformities, Congenital

KW - Male

KW - Microcephaly

KW - Molecular Sequence Data

KW - Molecular genetics

KW - Mutation

KW - Pedigree

KW - Ubiquitin-Protein Ligases

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DO - 10.1136/jmedgenet-2012-101405

M3 - Article

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SP - 493

EP - 499

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 0022-2593

ER -

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Abstract

Keywords

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