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Last Updated: 01/07/2026
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Found 594 publications
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) due to polyAla site variant in FOXL2: diagnostic challenges with NGS.
Journal: BMJ case reports
Published: August 26, 2025
Kaufman oculocerebrofacial syndrome: case report of a UBE3B splice site variant and clinical overview of reported patients.
Journal: Molecular cytogenetics
Published: August 01, 2025
One-stage versus two-stage surgical correction of blepharophimosis-ptosis-epicanthus inversus syndrome: a retrospective comparative study.
Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: June 14, 2025
Chromosome 3q22.2-q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome, Dandy-Walker Malformation, Pierre Robin Sequence, and Recurrent Infections.
Journal: American journal of medical genetics. Part A
Published: May 03, 2025
Functional analysis of a novel FOXL2 mutation in blepharophimosis, ptosis, and epicanthus inversus syndrome type II and elucidation of the genotype-phenotype correlation.
Journal: Human genomics
Published: February 06, 2025
Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B -Related Disorders: Case Series and Review of the Literature.
Journal: American journal of medical genetics. Part A
Published: January 22, 2025
MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.
Journal: American journal of medical genetics. Part A
Published: April 30, 2024
Nablus mask-like facial syndrome: Report of an atypical case with 8q21.3-q22.1 deletion.
Journal: American journal of medical genetics. Part A
Published: April 18, 2024
Exome sequencing confirms the clinical diagnosis of both joubert syndrome and klinefelter syndrome with keratoconus in a han Chinese family.
Journal: Frontiers in genetics
Published: April 15, 2024
Lambda-double-fixation for medial epicanthoplasty in Blepharophimosis - Ptosis - Epicanthus Inversus Syndrome.
Journal: Orbit (Amsterdam, Netherlands)
Published: March 21, 2024
Last Updated: 01/07/2026