FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome [PDF]
, 2007 De Baere, Elfride +5 more
core +2 more sources
Multimodality Imaging Of Torpedo Maculopathy With Swept-Source, En Face Optical Coherence Tomography And Optical Coherence Tomography Angiography. [PDF]
, 2016 PURPOSE: Multimodality image analysis of two cases of torpedo maculopathy. METHODS: Imaging with fundus photography, autofluorescence (AF), swept-source optical coherence tomography (OCT), en face OCT, and OCT angiography.
Keane, PA +3 more
core
Blepharophimosis-ptosis-epicanthus inversus syndrome (type 1)
TNOA Journal of Ophthalmic Science and Research, 2021 Manpreet Singh +3 more
doaj +1 more source
Insuficiência ovárica prematura : análise da associação a outras falências endócrinas [PDF]
, 2011 Trabalho final de mestrado integrado em Medicina àrea científica de Ginecologia, apresentado à Faculdade de Medicina da Universidade de CoimbraA Insuficiência Ovárica Prematura caracteriza-se pela existência de uma disfunção primária do ovário que impede
Nunes, Ana Filipa Coutinho
core
Expanded phenotypic spectrum of FOXL2 Variant c.672_701dup revealed by whole-exome sequencing in a rare blepharophimosis, ptosis, and epicanthus inversus syndrome family. [PDF]
BMC Ophthalmol, 2023 Lin ZB +8 more
europepmc +1 more source
Mosaicism in BRPF1-Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review. [PDF]
Case Rep Genet, 2023 Bayanbold K +3 more
europepmc +1 more source
Mental retardation with blepharophimosis. [PDF]
Journal of Medical Genetics, 1987 B Say, N Barber
openaire +1 more source
Identification of copy number variants associated with BPES-like phenotypes [PDF]
core +1 more source
Two Cases of Congenital Blepharophimosis [PDF]
Proceedings of the Royal Society of Medicine, 1925 openaire +2 more sources