Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Clinical and Molecular Analysis of a Case

Francesca Mari; Daniela Giachino; Lucia Russo; Giuseppe Pilia; Francesca Ariani; Elisa Scala; Francesca Chiappe; Katia Sampieri; Aldo Caporossi; Alessandra Renieri; Giacomo Lasorella

doi:10.1016/j.jaapos.2006.01.002

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Clinical and Molecular Analysis of a Case

Francesca Mari
, Daniela Giachino
, Lucia Russo
, Giuseppe Pilia
, Francesca Ariani
, Elisa Scala
, Francesca Chiappe
, Katia Sampieri
, Aldo Caporossi
, Alessandra Renieri
, Giacomo Lasorella

Università Cattolica del Sacro Cuore

University of Siena
Azienda Ospedaliera Universitaria Senese
University of Cagliari

Research output: Contribution to journal › Article

9 Citations (Scopus)

Abstract

[No abstract available]

Original language	English
Pages (from-to)	279-280
Number of pages	2
Journal	Journal of AAPOS
Volume	10
DOIs	https://doi.org/10.1016/j.jaapos.2006.01.002
Publication status	Published - 2006

Keywords

Adult
Blepharophimosis
Blepharoptosis
Child
Child, Preschool
DNA
Female
Forkhead Box Protein L2
Forkhead Transcription Factors
Genotype
Humans
Male
Middle Aged
Mutation
Ophthalmology
Pediatrics, Perinatology and Child Health
Primary Ovarian Insufficiency
Syndrome

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10.1016/j.jaapos.2006.01.002

Cite this

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title = "Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Clinical and Molecular Analysis of a Case",

abstract = "[No abstract available]",

keywords = "Adult, Blepharophimosis, Blepharoptosis, Child, Child, Preschool, DNA, Female, Forkhead Box Protein L2, Forkhead Transcription Factors, Genotype, Humans, Male, Middle Aged, Mutation, Ophthalmology, Pediatrics, Perinatology and Child Health, Primary Ovarian Insufficiency, Syndrome, Adult, Blepharophimosis, Blepharoptosis, Child, Child, Preschool, DNA, Female, Forkhead Box Protein L2, Forkhead Transcription Factors, Genotype, Humans, Male, Middle Aged, Mutation, Ophthalmology, Pediatrics, Perinatology and Child Health, Primary Ovarian Insufficiency, Syndrome",

author = "Francesca Mari and Daniela Giachino and Lucia Russo and Giuseppe Pilia and Francesca Ariani and Elisa Scala and Francesca Chiappe and Katia Sampieri and Aldo Caporossi and Alessandra Renieri and Giacomo Lasorella",

year = "2006",

doi = "10.1016/j.jaapos.2006.01.002",

language = "English",

volume = "10",

pages = "279--280",

journal = "Journal of AAPOS",

issn = "1091-8531",

publisher = "Elsevier Inc.",

}

TY - JOUR

T1 - Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Clinical and Molecular Analysis of a Case

AU - Mari, Francesca

AU - Giachino, Daniela

AU - Russo, Lucia

AU - Pilia, Giuseppe

AU - Ariani, Francesca

AU - Scala, Elisa

AU - Chiappe, Francesca

AU - Sampieri, Katia

AU - Caporossi, Aldo

AU - Renieri, Alessandra

AU - Lasorella, Giacomo

PY - 2006

Y1 - 2006

N2 - [No abstract available]

AB - [No abstract available]

KW - Adult

KW - Blepharophimosis

KW - Blepharoptosis

KW - Child

KW - Child, Preschool

KW - DNA

KW - Female

KW - Forkhead Box Protein L2

KW - Forkhead Transcription Factors

KW - Genotype

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Ophthalmology

KW - Pediatrics, Perinatology and Child Health

KW - Primary Ovarian Insufficiency

KW - Syndrome

KW - Adult

KW - Blepharophimosis

KW - Blepharoptosis

KW - Child

KW - Child, Preschool

KW - DNA

KW - Female

KW - Forkhead Box Protein L2

KW - Forkhead Transcription Factors

KW - Genotype

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

KW - Ophthalmology

KW - Pediatrics, Perinatology and Child Health

KW - Primary Ovarian Insufficiency

KW - Syndrome

UR - http://hdl.handle.net/10807/125483

U2 - 10.1016/j.jaapos.2006.01.002

DO - 10.1016/j.jaapos.2006.01.002

M3 - Article

SN - 1091-8531

VL - 10

SP - 279

EP - 280

JO - Journal of AAPOS

JF - Journal of AAPOS

ER -

Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome: Clinical and Molecular Analysis of a Case

Abstract

Keywords

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