Identification of a Novel Mutation inFOXL2Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family-Reference-Cited by-同舟云学术

Identification of a Novel Mutation inFOXL2Gene That Leads to Blepharophimosis Ptosis Epicanthus Inversus and Telecanthus Syndrome in a Tunisian Consanguineous Family

Published:2010-02 Issue:1 Volume:14 Page:145-148
ISSN:1945-0265
Container-title:Genetic Testing and Molecular Biomarkers
language:en
Short-container-title:Genetic Testing and Molecular Biomarkers

Author:

Chouchene Ibtissem¹²,Derouiche Kaouthar²,Chaabouni Afif³,Cherif Lamia¹,Amouri Ahlem¹⁴,Largueche Leila²,Abdelhak Sonia¹,Matri Leila El²

Affiliation:

1. Molecular Investigation of Genetic Orphan Diseases” Research Unit, Pasteur Institute of Tunis, Tunis, Tunisia.

2. “Oculogenetics” Research Unit, Service B, Hedi Rais Institute of Ophthalmology, Tunis, Tunisia.

3. Department “Service B,” Hedi Rais Institute of Ophthalmology, Tunis, Tunisia.

4. Laboratory of Cytogenetic, Pasteur Institute of Tunis, Tunis, Tunisia.

Publisher

Mary Ann Liebert Inc

Subject

Genetics(clinical),General Medicine

Link

http://www.liebertpub.com/doi/pdf/10.1089/gtmb.2009.0091

Reference28 articles.

1. Potential targets of FOXL2, a transcription factor involved in craniofacial and follicular development, identified by transcriptomics

2. Two Families with Blepharophimosis/Ptosis/Epicanthus Inversus Syndrome Have Mutations in the Putative Forkhead Transcription Factor FOXL2

3. Identification of 34 novel and 56 knownFOXL2mutations in patients with blepharophimosis syndrome

4. The humanFOXL2 mutation database

5. Mutational analysis of forkhead transcriptional factor 2 (FOXL2) in Korean patients with blepharophimosis-ptosis-epicanthus inversus syndrome

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1. The Genetic and Clinical Features of FOXL2-Related Blepharophimosis, Ptosis and Epicanthus Inversus Syndrome;Genes;2021-03-04

2. Genetic diseases in the Tunisian population;American Journal of Medical Genetics Part A;2010-12-28