Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of <b><i>FOXL2</i></b> and Review of the Literature-Reference-Cited by-同舟云学术

Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome: New Report with a 197-kb Deletion Upstream of FOXL2 and Review of the Literature

Published:2019 Issue:3 Volume:10 Page:147-153
ISSN:1661-8769
Container-title:Molecular Syndromology
language:en
Short-container-title:Mol Syndromol

Author:

Bertini Veronica,Valetto Angelo,Baldinotti Fulvia,Azzarà Alessia,Cambi Francesca,Toschi Benedetta,Giacomina Alessandro,Gatti Gian L.,Gana Simone,Caligo Maria A.,Bertelloni Silvano

Publisher

S. Karger AG

Subject

Genetics (clinical),Genetics

Reference23 articles.

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2. Beysen D, Raes J, Leroy BP, Lucassen A, Yates JR, et al: Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome. Am J Hum Genet 77:205-218 (2005).

3. Beysen D, De Paepe A, De Baere E: FOXL2 mutations and genomic rearrangements in BPES. Hum Mutat 30:158-169 (2009).

4. Bhatia S, Kleinjan DA: Disruption of long-range gene regulation in human genetic disease: a kaleidoscope of general principles, diverse mechanisms and unique phenotypic consequences. Hum Genet 133:81-845 (2014).

5. Binder G, Schweizer R, Haber P, Blumenstock G, Braun R: Accuracy of endocrine tests for detecting hypogonadotropic hypogonadism in girls. J Pediatr 167:674-678 (2015).

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3. Pathogenic Mechanisms of Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome in a Chinese Family with a Novel Missense FOXL2 Mutation;J BIOL REG HOMEOS AG;2023

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