Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations-Reference-Cited by-同舟云学术

Screening of a large cohort of blepharophimosis, ptosis, and epicanthus inversus syndrome patients reveals a very strong paternal inheritance bias and a wide spectrum of novel FOXL2 mutations

Published:2019-07 Issue:7 Volume:62 Page:103668
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bunyan David J.,Thomas N. Simon

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference23 articles.

1. Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations;Benayoun;Hum. Mol. Genet.,2009

2. Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome;Beysen;Am. J. Hum. Genet.,2005

3. Missense mutations in the forkhead domain of FOXL2 lead to subcellular mislocalization, protein aggregation and impaired transactivation;Beysen;Hum. Mol. Genet.,2008

4. Identification of 34 novel and 56 known FOXL2 mutations in patients with blepharophimosis syndrome;Beysen;Hum. Mutat.,2008

5. FOXL2 mutations and genomic rearrangements in BPES;Beysen;Hum. Mutat.,2009

Cited by 14 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Novel FOXL2 variants in two Chinese families with blepharophimosis, ptosis, and epicanthus inversus syndrome;Frontiers in Genetics;2024-02-12

2. Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family;BMC Ophthalmology;2023-11-07

3. Ovarian Reserve and ART Outcomes in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Patients With FOXL2 Mutations;Frontiers in Endocrinology;2022-04-28

4. A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?;European Journal of Human Genetics;2022-03-11

5. Congenital Ptosis;Albert and Jakobiec's Principles and Practice of Ophthalmology;2022